- **review 160 pcases !!!!!**https://www.tandfonline.com/doi/abs/10.1080/15548627.2021.1990671
- **review+ 17 new cases (males)  !!**
https://www.sciencedirect.com/science/article/pii/S0887899420300849?casa_token=nlNoFpwcHtcAAAAA:e4DQEEyzIXopL8T0DHS6Fu5WsmQf3NuNqPbP7chy0OlmajGsgGV0gTJnMpO4-GpDDqbBwcneAZk
- 40 patients, 2 males https://ng.neurology.org/content/4/2/e227
- 1 mutation https://www.sciencedirect.com/science/article/abs/pii/S0022510X14008016
- 1 case report 1 giirl https://publications.aap.org/pediatrics/article-abstract/136/3/e714/61183/Novel-WDR45-Mutation-and-Pathognomonic-BPAN
- 7 female patients https://onlinelibrary.wiley.com/doi/full/10.1111/epi.13957
- physio https://www.tandfonline.com/doi/abs/10.1080/15548627.2021.1924039
- 5 young females https://www.sciencedirect.com/science/article/pii/S1769721217308790?casa_token=X6h39LuV_a8AAAAA:3VCywVz-NvsV-j7nlwfNQiHI7w3m3w7PcsPANxEUAOgmwTyGGy0kLxpsa9NtgFppUvtWyZ_ciYY
- 1 case report female https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.858
- 1 case report female https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.36635
- 1 case report female https://www.sciencedirect.com/science/article/pii/S0387760417301432?casa_token=G1KM-amFLoAAAAAA:oYQOlK9nf0A_ZSTiNjJ3UVTMlsWKOYMkWYUz3qOSBYHnILk4WhEzzaT0FOIX6iamazynOVw7S10
- 1 case fmale https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656753/
- https://www.sciencedirect.com/science/article/abs/pii/S1769721215001135 wdr45 + plr3a
- 1 patient  https://ng.neurology.org/content/3/1/e124.short
- 1 case report https://synapse.koreamed.org/articles/1047886
-  mouse model https://link.springer.com/article/10.1007/s00335-021-09875-3
- 2 twins https://link.springer.com/article/10.1007/s00415-017-8475-2
-  1 female
  https://www.sciencedirect.com/science/article/pii/S1769721219302253?casa_token=xRLAjZr8aEoAAAAA:JTv4npwgzR15uM21SWNpQ8m8asRbV7tlwyIqj4AR8xP3k8fjTC4n78nPCqEo01_sQL9nXDHmj2w
-  functional analysis https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38656
-  male  https://onlinelibrary.wiley.com/doi/10.1111/cge.12849
- 1 male https://pubmed.ncbi.nlm.nih.gov/28371320/
- [ ] [cite:@Aring_2021] physiopathology model for WDR45 deficit
- [ ] [cite:@Cong_2021] **review** of WDR45 : 93 variant, 84 women, 9 males with sch
- [ ] WDR45 knockout mice -> model for BPAN
- [ ] [cite:@Noda_2021] brain study in knockout mice
- [ ] [cite:@Khoury_2019] 1 case of epileptic encephalopathy
- [ ] [cite:@Ak_akaya_2019] 1 patient BPAN mosaicim c.873C>G; p.(Tyr291*)
- [ ] [cite:@Liu_2018]  9 month-old c.977-1 C>T) **no iron on MRI**
- [ ] [cite:@morisada2016] 1 woman : **21 years = MRI with atrophy only**, 39 years = MIR with classic anomalies !
- [ ] [cite:@Lee_iron_2021] c.974-1G>A étude fibroblaste
- [ ] [cite:@lee_autophagic_2021] c.977-1G>A effet autophage fibroblaste
- [ ] [cite:@Sato2020]  1 case, classic BPAN but with lateral parkinsonism
- [ ] [cite:@Tang2020] 5 unrelated children with de novo variant **normal MRI**

** WAIT [#A] review 160 cases !!!!! @saffari021
  pas sur scihub....
  demande faite sur researchgate
** TODO [#A] review 106 cas + 17 new cases (males)  !!
  adang2020
  Half do not have iron deposit in the brain
** TODO 40 patients, 2 males Kulikovskaja 2018
60 CAS Rapportés
** 1 mutation WDR45 for 69 patients NBIA 6 @tscentschier2015
** 1 case report 1 girl @@long2015
** 7 female patients @carvill2017
6 truncating 1 missense
** TODO physio @ji2021
** 5 young females @chen2019
** 1 case report female @xiong2019
** 1 case report female @ozawa2014
** 1 case report female @morikawa2017
infantile spasms here milder in woman (treatable)
mildl
** 1 case female @hermann2017
Panel négatif initialement -> diag sur qPCR
** wdr45 + plr3a @khalifa2015
** 1 patient female @wynn2017
** 1 femane 38Y in Korea + iron @ryu2015
** TODO mouse model @biagosch2021
** 2 twins female @araujo2017
** 1 female 6 years @christoforou2020
** diag at 6 years-old, girl, functional analysis @willoughby2017
A trio was needed
** male @@spiegel2016
** 1 male, severe @redon201
** DONE [cite:@Aring_2021] physiopathology model for WDR45 deficit
** DONE [cite:@Cong_2021] **review** of WDR45 : 93 variant, 84 women, 9 males with sch
** DONE WDR45 knockout mice -> model for BPAN
** DONE [cite:@Noda_2021] brain study in knockout mice
** DONE [cite:@Khoury_2019] 1 case of epileptic encephalopathy
** DONE [cite:@Ak_akaya_2019] 1 patient BPAN mosaicim c.873C>G; p.(Tyr291*)
** DONE [cite:@Liu_2018]  9 month-old c.977-1 C>T) **no iron on MRI**
** DONE [cite:@morisada2016] 1 woman : **21 years = MRI with atrophy only**, 39 years = MIR with classic anomalies !
** DONE [cite:@Lee_iron_2021] c.974-1G>A étude fibroblaste
** DONE [cite:@lee_autophagic_2021] c.977-1G>A effet autophage fibroblaste
** DONE [cite:@Sato2020]  1 case, classic BPAN but with lateral parkinsonism
** DONE [cite:@Tang2020] 5 unrelated children with de novo variant **normal MRI**

- [cite:@Hattingen_2017]  1 female
- ?? 1 female, epilepsy  : c.830＋2dup
- [cite:@Xixis_2016] 1 case report  ,, epileptic spasm
- https://n.neurology.org/content/92/15_Supplement/P3.8-022.abstract mosais c830+1G>A mosaic
  - 1 case report https://www.thieme-connect.com/products/ejournals/html/10.1055/s-0041-1739626
- [cite:@Endo_2017] 1 case report, woman
- [ ] [cite:@Umehara_2020] : 1 woman c.233C > A, p. Ser78*

** TODO [cite:@Hattingen_2017]  1 female
** TODO ?? 1 female, epilepsy  : c.830＋2dup
** TODO [cite:@Xixis_2016] 1 case report  ,, epileptic spasm
** TODO https://n.neurology.org/content/92/15_Supplement/P3.8-022.abstract mosais c830+1G>A mosaic
  ** TODO 1 case report https://www.thieme-connect.com/products/ejournals/html/10.1055/s-0041-1739626
** TODO [cite:@Endo_2017] 1 case report, woman
** DONE [cite:@Umehara_2020] : 1 woman c.233C > A, p. Ser78*

- 3 years old gil https://cpfd.cnki.com.cn/Article/CPFDTOTAL-JSYC201811001060.htm
- 7 females https://www.sciencedirect.com/science/article/abs/pii/S0197458015000548
- 1 male https://movementdisorders.onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.13365
- https://onlinelibrary.wiley.com/doi/10.1111/ene.14679
- https://www.prd-journal.com/article/S1353-8020(18)30496-6/fulltext
- 3 male with west https://www.nature.com/articles/jhg201627
- 1 girl rett-like https://www.sciencedirect.com/science/article/pii/S0890850816300032?casa_token=ehws_TFdQiMAAAAA:zsj3IRGv0EqyuUxRso4zZpNH-p-ygXa5c9QSqb-E8HtcgkxWxZ-SndxH2SdrNxrd0A-EWC8xM2w
- https://academic.oup.com/brain/article/141/10/3052/5087794?login=true
- mouse model https://www.tandfonline.com/doi/full/10.1080/15548627.2019.1630224
- 1 girl, rett-like    https://www.nature.com/articles/jhg201418
- 1 male https://www.nature.com/articles/ejhg2015159
- 1 boy https://www.sciencedirect.com/science/article/pii/S1769721217302203?casa_token=t72fvriXW7kAAAAA:SDq-OjjKJAN3lopp-kU4fBypLYAP7sfJjv-PDMpVYRmIS5GGBHUMaywYVB_fHCdk2IlGrOYllak
- [ ] [cite:@Ji_2021] show that WDR45 is required for neural autophagy
- [ ] [cite:@Kano_2020] *revue* + 1 patiente
- 1 case report
- https://mediatum.ub.tum.de/1256878
-  https://europepmc.org/article/med/31665836

** TODO 3 years old gil https://cpfd.cnki.com.cn/Article/CPFDTOTAL-JSYC201811001060.htm
** TODO 7 females https://www.sciencedirect.com/science/article/abs/pii/S0197458015000548
** TODO 1 male https://movementdisorders.onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.13365
** TODO https://onlinelibrary.wiley.com/doi/10.1111/ene.14679
** TODO https://www.prd-journal.com/article/S1353-8020(18)30496-6/fulltext
** TODO 3 male with west https://www.nature.com/articles/jhg201627
** TODO 1 girl rett-like https://www.sciencedirect.com/science/article/pii/S0890850816300032?casa_token=ehws_TFdQiMAAAAA:zsj3IRGv0EqyuUxRso4zZpNH-p-ygXa5c9QSqb-E8HtcgkxWxZ-SndxH2SdrNxrd0A-EWC8xM2w
** TODO https://academic.oup.com/brain/article/141/10/3052/5087794?login=true
** TODO mouse model https://www.tandfonline.com/doi/full/10.1080/15548627.2019.1630224
** TODO 1 girl, rett-like    https://www.nature.com/articles/jhg201418
** TODO 1 male https://www.nature.com/articles/ejhg2015159
** TODO 1 boy https://www.sciencedirect.com/science/article/pii/S1769721217302203?casa_token=t72fvriXW7kAAAAA:SDq-OjjKJAN3lopp-kU4fBypLYAP7sfJjv-PDMpVYRmIS5GGBHUMaywYVB_fHCdk2IlGrOYllak
** DONE [cite:@Ji_2021] show that WDR45 is required for neural autophagy
** DONE [cite:@Kano_2020] *revue* + 1 patiente
** TODO 1 case report
** TODO https://mediatum.ub.tum.de/1256878
** TODO https://europepmc.org/article/med/31665836

- [ ] Gregory2019
- [ ] [cite:@saitsu2013] nouveau phénotype WDR45 5 patients -> TODO data
- [X] [cite:@haylick2013] phenotype details of the cohort in [cite:@haack2012]
  - The protein encoded by WDR45 is characterized as a beta-pro- peller scaffold that serves as a platform to enable specific protein– protein interactions that are important in autophagy.
- [X] [cite:@haack2012] first description of WDR45 in NBIA 19 mutations, 20 subjects.

** DONE Gregory2019
** DONE [cite:@saitsu2013] nouveau phénotype WDR45 5 patients -> TODO data
** DONE [cite:@haylick2013] phenotype details of the cohort in [cite:@haack2012]
  ** TODO The protein encoded by WDR45 is characterized as a beta-pro- peller scaffold that serves as a platform to enable specific protein– protein interactions that are important in autophagy.
** DONE [cite:@haack2012] first description of WDR45 in NBIA 19 mutations, 20 subjects.

- [X] Gregory2009
- [ ] Gregory2002

** DONE Gregory2009
** DONE Gregory2002

@article{aring2021,

@article{cong_wdr45_2021,
	title = {{WDR45}, one gene associated with multiple neurodevelopmental disorders},
	volume = {17},
	issn = {1554-8627},
	url = {https://doi.org/10.1080/15548627.2021.1899669},
	doi = {10.1080/15548627.2021.1899669},
	abstract = {The WDR45 gene is localized on the X-chromosome and variants in this gene are linked to six different neurodegenerative disorders, i.e., ß-propeller protein associated neurodegeneration, Rett-like syndrome, intellectual disability, and epileptic encephalopathies including developmental and epileptic encephalopathy, early-onset epileptic encephalopathy and West syndrome and potentially also specific malignancies. WDR45/WIPI4 is a WD-repeat β-propeller protein that belongs to the WIPI (WD repeat domain, phosphoinositide interacting) family. The precise cellular function of WDR45 is still largely unknown, but deletions or conventional variants in WDR45 can lead to macroautophagy/autophagy defects, malfunctioning mitochondria, endoplasmic reticulum stress and unbalanced iron homeostasis, suggesting that this protein functions in one or more pathways regulating directly or indirectly those processes. As a result, the underlying cause of the WDR45-associated disorders remains unknown. In this review, we summarize the current knowledge about the cellular and physiological functions of WDR45 and highlight how genetic variants in its encoding gene may contribute to the pathophysiology of the associated diseases. In particular, we connect clinical manifestations of the disorders with their potential cellular origin of malfunctioning and critically discuss whether it is possible that one of the most prominent shared features, i.e., brain iron accumulation, is the primary cause for those disorders.Abbreviations: ATG/Atg: autophagy related; BPAN: ß-propeller protein associated neurodegeneration; CNS: central nervous system; DEE: developmental and epileptic encephalopathy; EEG: electroencephalograph; ENO2/neuron-specific enolase, enolase 2; EOEE: early-onset epileptic encephalopathy; ER: endoplasmic reticulum; ID: intellectual disability; IDR: intrinsically disordered region; MRI: magnetic resonance imaging; NBIA: neurodegeneration with brain iron accumulation; NCOA4: nuclear receptor coactivator 4; PtdIns3P: phosphatidylinositol-3-phosphate; RLS: Rett-like syndrome; WDR45: WD repeat domain 45; WIPI: WD repeat domain, phosphoinositide interacting},
	number = {12},
	urldate = {2022-03-09},
	journal = {Autophagy},
	author = {Cong, Yingying and So, Vincent and Tijssen, Marina A. J. and Verbeek, Dineke S. and Reggiori, Fulvio and Mauthe, Mario},
	month = dec,
	year = {2021},
	pmid = {33843443},
	note = {Publisher: Taylor \& Francis
\_eprint: https://doi.org/10.1080/15548627.2021.1899669},
	keywords = {Autophagy, beta-propeller protein-associated neurodegeneration, brain iron accumulation, endoplasmic reticulum, mitochondria},
	pages = {3908--3923},
	file = {Full Text:C\:\\Users\\alexi\\Zotero\\storage\\6SZ8GQZS\\Cong et al. - 2021 - WDR45, one gene associated with multiple neurodeve.pdf:application/pdf},
}
@article{aring_neurodegeneration_2021,

}
@article{lee_iron_2021,
	title = {Iron {Accumulation} and {Changes} in {Cellular} {Organelles} in {WDR45} {Mutant} {Fibroblasts}},
	volume = {22},
	url = {https://doi.org/10.3390%2Fijms222111650},
	doi = {10.3390/ijms222111650},
	number = {21},
	journal = {IJMS},
	author = {Lee, Hye Eun and Jung, Min Kyo and Noh, Seul Gi and Choi, Hye Bin and Chae, Se hyun and Lee, Jae Hyeok and Mun, Ji Young},
	month = oct,
	year = {2021},
	note = {Publisher: MDPI AG},
	pages = {11650},

@incollection{hayflick2018,
	doi = {10.1016/b978-0-444-63233-3.00019-1},

@article{lee_autophagic_2021,
	title = {Autophagic defects observed in fibroblasts from a patient with \${\textbackslash}upbeta\$-propeller protein-associated neurodegeneration},
	volume = {185},
	url = {https://doi.org/10.1002%2Fajmg.a.62442},
	doi = {10.1002/ajmg.a.62442},
	number = {12},
	journal = {Am J Med Genet},
	author = {Lee, Jae-Hyeok and Nam, Sang Ook and Kim, Eun Kyoung and Shin, Jin-Hong and Oh, Seung Hwan and Ryu, Dongryeol and Lee, Hye Eun and Mun, Ji Young},
	month = jul,
	year = {2021},
	note = {Publisher: Wiley},
	pages = {3866--3871},
}
@article{tang_novo_2020,
	title = {De novo variants in {WDR45} underlie beta-propeller protein-associated neurodegeneration in five independent families},
	volume = {8},
	url = {https://doi.org/10.1002%2Fmgg3.1499},
	doi = {10.1002/mgg3.1499},
	number = {11},
	journal = {Mol Genet Genomic Med},
	author = {Tang, Xiaojun and Lan, Xiaoping and Song, Xiaozhen and Xu, Wuhen and Zhang, Yuanfeng and Zhang, Hong and Wu, Shengnan},
	month = oct,
	year = {2020},
	note = {Publisher: Wiley},
}
@article{adang_phenotypic_2020,
	title = {Phenotypic and {Imaging} {Spectrum} {Associated} {With} {WDR45}},
	volume = {109},
	url = {https://doi.org/10.1016%2Fj.pediatrneurol.2020.03.005},
	doi = {10.1016/j.pediatrneurol.2020.03.005},
	journal = {Pediatric Neurology},
	author = {Adang, Laura A. and Pizzino, Amy and Malhotra, Alka and Dubbs, Holly and Williams, Catherine and Sherbini, Omar and Anttonen, Anna-Kaisa and Lesca, Gaetan and Linnankivi, Tarja and Laurencin, Chloé and Milh, Matthieu and Perrine, Charles and Schaaf, Christian P. and Poulat, Anne-Lise and Ville, Dorothee and Hagelstrom, Tanner and Perry, Denise L. and Taft, Ryan J. and Goldstein, Amy and Vossough, Arastoo and Helbig, Ingo and Vanderver, Adeline},
	month = aug,
	year = {2020},
	note = {Publisher: Elsevier BV},
	pages = {56--62},
}
@article{xiong_functional_2019,
	title = {Functional evidence for a de novo mutation in {WDR45} leading to {BPAN} in a {Chinese} girl},
	volume = {7},
	url = {https://doi.org/10.1002%2Fmgg3.858},
	doi = {10.1002/mgg3.858},
	number = {9},
	journal = {Mol Genet Genomic Med},
	author = {Xiong, Qiuhong and Li, Wenjing and Li, Ping and Zhao, Zhonghua and Wu, Changxin and Xiao, Han},
	month = jul,
	year = {2019},
	note = {Publisher: Wiley},
}
@article{seibler_iron_2018,
	title = {Iron overload is accompanied by mitochondrial and lysosomal dysfunction in {WDR45} mutant cells},
	volume = {141},
	url = {https://doi.org/10.1093%2Fbrain%2Fawy230},
	doi = {10.1093/brain/awy230},
	number = {10},
	journal = {Brain},
	author = {Seibler, Philip and Burbulla, Lena F. and Dulovic, Marija and Zittel, Simone and Heine, Johanne and Schmidt, Thomas and Rudolph, Franziska and Westenberger, Ana and Rakovic, Aleksandar and Münchau, Alexander and Krainc, Dimitri and Klein, Christine},
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	year = {2018},
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	pages = {3052--3064},
}
@article{chen_early_2019,
	title = {Early onset developmental delay and epilepsy in pediatric patients with {WDR45} variants},
	volume = {62},
	url = {https://doi.org/10.1016%2Fj.ejmg.2018.07.002},
	doi = {10.1016/j.ejmg.2018.07.002},
	number = {2},
	journal = {European Journal of Medical Genetics},
	author = {Chen, Hongbo and Qian, Yanyan and Yu, Sha and Xiao, Deyong and Guo, Xiao and Wang, Qing and Hao, Lili and Yan, Kai and Lu, Yulan and Dong, Xinran and Zhou, Wenhao and Wu, Bingbing and Zhou, Shuizhen and Wang, Huijun},
	month = feb,
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	note = {Publisher: Elsevier BV},
	pages = {149--160},
}
@article{carvill_severe_2017,
	title = {Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene {WDR45}},
	volume = {59},
	url = {https://doi.org/10.1111%2Fepi.13957},
	doi = {10.1111/epi.13957},
	number = {1},
	journal = {Epilepsia},
	author = {Carvill, Gemma L. and Liu, Aijie and Mandelstam, Simone and Schneider, Amy and Lacroix, Amy and Zemel, Matthew and McMahon, Jacinta M. and Bello-Espinosa, Luis and Mackay, Mark and Wallace, Geoffrey and Waak, Michaela and Zhang, Jing and Yang, Xiaoling and Malone, Stephen and Zhang, Yue-Hua and Mefford, Heather C. and Scheffer, Ingrid E.},
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	note = {Publisher: Wiley},
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}
@article{takano_early_2017,
	title = {Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration},
	volume = {60},
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	doi = {10.1016/j.ejmg.2017.07.008},
	number = {10},
	journal = {European Journal of Medical Genetics},
	author = {Takano, Kyoko and Goto, Kazuya and Motobayashi, Mitsuo and Wakui, Keiko and Kawamura, Rie and Yamaguchi, Tomomi and Fukushima, Yoshimitsu and Kosho, Tomoki},
	month = oct,
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	pages = {521--526},
}
@article{morikawa_clinical_2017,
	title = {Clinical features of a female with {WDR45} mutation complicated by infantile spasms: a case report and literature review},
	volume = {39},
	url = {https://doi.org/10.1016%2Fj.braindev.2017.05.003},
	doi = {10.1016/j.braindev.2017.05.003},
	number = {9},
	journal = {Brain and Development},
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	year = {2017},
	note = {Publisher: Elsevier BV},
	pages = {804--807},
}
@article{nakashima_wdr45_2016,
	title = {{WDR45} mutations in three male patients with {West} syndrome},
	volume = {61},
	url = {https://doi.org/10.1038%2Fjhg.2016.27},
	doi = {10.1038/jhg.2016.27},
	number = {7},
	journal = {J Hum Genet},
	author = {Nakashima, Mitsuko and Takano, Kyoko and Tsuyusaki, Yu and Yoshitomi, Shinsaku and Shimono, Masayuki and Aoki, Yoshihiro and Kato, Mitsuhiro and Aida, Noriko and Mizuguchi, Takeshi and Miyatake, Satoko and Miyake, Noriko and Osaka, Hitoshi and Saitsu, Hirotomo and Matsumoto, Naomichi},
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	year = {2016},
	note = {Publisher: Springer Science and Business Media LLC},
	pages = {653--661},
}
@article{zarate_lessons_2015,
	title = {Lessons from a pair of siblings with {BPAN}},
	volume = {24},
	url = {https://doi.org/10.1038%2Fejhg.2015.242},
	doi = {10.1038/ejhg.2015.242},
	number = {7},
	journal = {Eur J Hum Genet},
	author = {Zarate, Yuri A. and Jones, Julie R. and Jones, Melanie A. and Millan, Francisca and Juusola, Jane and Vertino-Bell, Annette and Schaefer, G. Bradley and Kruer, Michael C.},
	month = nov,
	year = {2015},
	note = {Publisher: Springer Science and Business Media LLC},
	pages = {1080--1083},
}
@article{tschentscher_analysis_2015,
	title = {Analysis of the {C19orf12} and {WDR45} genes in patients with neurodegeneration with brain iron accumulation},
	volume = {349},
	url = {https://doi.org/10.1016%2Fj.jns.2014.12.036},
	doi = {10.1016/j.jns.2014.12.036},
	number = {1-2},
	journal = {Journal of the Neurological Sciences},
	author = {Tschentscher, Anne and Dekomien, Gabriele and Ross, Sophia and Cremer, Kirsten and Kukuk, Guido M. and Epplen, Jörg T. and Hoffjan, Sabine},
	month = feb,
	year = {2015},
	note = {Publisher: Elsevier BV},
	pages = {105--109},
}
@article{okamoto_early_2014,
	title = {Early manifestations of {BPAN} in a pediatric patient},
	volume = {164},
	url = {https://doi.org/10.1002%2Fajmg.a.36779},
	doi = {10.1002/ajmg.a.36779},
	number = {12},
	journal = {Am. J. Med. Genet.},
	author = {Okamoto, Nobuhiko and Ikeda, Tae and Hasegawa, Tatsuji and Yamamoto, Yuto and Kawato, Kazumi and Komoto, Tomohiro and Imoto, Issei},
	month = sep,
	year = {2014},
	note = {Publisher: Wiley},
	pages = {3095--3099},
}
@article{ozawa_novel_2014,
	title = {A novel {WDR45} mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood ({SENDA})},
	volume = {164},
	url = {https://doi.org/10.1002%2Fajmg.a.36635},
	doi = {10.1002/ajmg.a.36635},
	number = {9},
	journal = {Am. J. Med. Genet.},
	author = {Ozawa, Tadashi and Koide, Reiji and Nakata, Yasuhiro and Saitsu, Hirotomo and Matsumoto, Naomichi and Takahashi, Kazushi and Nakano, Imaharu and Orimo, Satoshi},
	month = jul,
	year = {2014},
	note = {Publisher: Wiley},
	pages = {2388--2390},
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@article{haack_exome_2012-1,
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	note = {Publisher: MDPI AG},

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	note = {Publisher: Wiley},

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@article{saitsu_novo_2013-1,
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@article{sato_case_2020,
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@article{tang_novo_2020-1,
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	author = {Xiaojun Tang and Xiaoping Lan and Xiaozhen Song and Wuhen Xu and Yuanfeng Zhang and Hong Zhang and Shengnan Wu},
	title = {De novo variants in
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@article{Cong_2021,

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	note = {Publisher: Informa UK Limited},

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@article{noda_physiological_2021,
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	url = {https://doi.org/10.1038%2Fs41598-021-02123-3},
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	author = {Mariko Noda and Hidenori Ito and Koh-ichi Nagata},
	title = {Physiological significance of {WDR}45, a responsible gene for $\upbeta$-propeller protein associated neurodegeneration ({BPAN}), in brain development},
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	author = {Khoury, Jean and Kotagal, Prakash and Moosa, Ahsan N. V.},
	month = oct,
	year = {2019},
	note = {Publisher: Elsevier BV},

	author = {Jean Khoury and Prakash Kotagal and Ahsan N.V. Moosa},
	title = {Epileptic encephalopathy and brain iron accumulation due to {WDR}45 mutation},
	journal = {Seizure}

@article{Ak_akaya_2019,

@article{akcakaya_novel_2019,
	title = {A {Novel} and {Mosaic} {WDR45} {Nonsense} {Variant} {Causes} {Beta}-{Propeller} {Protein}-{Associated} {Neurodegeneration} {Identified} {Through} {Whole} {Exome} {Sequencing} and {X} chromosome {Heterozygosity} {Analysis}},
	volume = {21},
	url = {https://doi.org/10.1007%2Fs12017-018-08522-6},

	url = {https://doi.org/10.1007%2Fs12017-018-08522-6},
	year = 2019,
	month = {jan},
	publisher = {Springer Science and Business Media {LLC}},
	volume = {21},

	journal = {Neuromol Med},
	author = {Akçakaya, Nihan Hande and Salman, Barış and Görmez, Zeliha and Argüden, Yelda Tarkan and Çırakoğlu, Ayşe and Çakmur, Raif and Çolakoğlu, Berril Dönmez and Hacıhanefioğlu, Seniha and Özbek, Uğur and Yapıcı, Zuhal and Uğur {\textbackslash}.Işeri, Sibel Aylin},
	month = jan,
	year = {2019},
	note = {Publisher: Springer Science and Business Media LLC},

	author = {Nihan Hande Ak{\c{c}}akaya and Bar{\i}{\c{s}} Salman and Zeliha Görmez and Yelda Tarkan Argüden and Ay{\c{s}}e {\c{C}}{\i}rako{\u{g}}lu and Raif {\c{C}}akmur and Berril Dönmez {\c{C}}olako{\u{g}}lu and Seniha Hac{\i}hanefio{\u{g}}lu and U{\u{g}}ur Özbek and Zuhal Yap{\i}c{\i} and Sibel Aylin U{\u{g}}ur {\.{I}}{\c{s}}eri},
	title = {A Novel and Mosaic {WDR}45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis},
	journal = {Neuromol Med} Medicine}

@article{Liu_2018,
	doi = {10.4103/0366-6999.247216},
	url = {https://doi.org/10.4103%2F0366-6999.247216},
	year = 2018,
	month = {dec},
	publisher = {Ovid Technologies (Wolters Kluwer Health)},

@article{liu_novel_2018,
	title = {A {Novel} {WDR45} {Mutation} in a 9-{Month}-{Old} {Male} {Infant} with {Epileptic} {Spasms}},

	url = {https://doi.org/10.4103%2F0366-6999.247216},
	doi = {10.4103/0366-6999.247216},

	journal = {Chinese Medical Journal},
	author = {Liu, Wan-Ting and Chen, Qian and Gao, Zhi-Jie and Ji, Xin-Na and Xu, Ke-Ming and Cao, Yan-Yan},
	month = dec,
	year = {2018},
	note = {Publisher: Ovid Technologies (Wolters Kluwer Health)},

	author = {Wan-Ting Liu and Qian Chen and Zhi-Jie Gao and Xin-Na Ji and Ke-Ming Xu and Yan-Yan Cao},
	title = {A Novel {WDR}45 Mutation in a 9-Month-Old Male Infant with Epileptic Spasms},
	journal = {Chinese Medical Journal}
}
@article{morisada2016,
  title={A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood},
  author={Morisada, Naoya and Tsuneishi, Syuichi and Taguchi, Kazuhiro and Yagi, Ryuzaburo and Nishiyama, Masahiro and Toyoshima, Daisaku and Nakagawa, Taku and Takeshima, Yasuhiro and Takada, Satoshi and Iijima, Kazumoto},
  journal={No to Hattatsu= Brain and Development},
  volume={48},
  number={3},
  pages={209--212},
  year={2016}

@article{morisada_woman_2016,
	title = {A woman with beta-propeller protein-associated neurodegeneration identified by the {WDR45} mutation presenting as {Rett}-like syndrome in childhood},
	volume = {48},
	number = {3},
	journal = {No to Hattatsu= Brain and Development},
	author = {Morisada, Naoya and Tsuneishi, Syuichi and Taguchi, Kazuhiro and Yagi, Ryuzaburo and Nishiyama, Masahiro and Toyoshima, Daisaku and Nakagawa, Taku and Takeshima, Yasuhiro and Takada, Satoshi and Iijima, Kazumoto},
	year = {2016},
	pages = {209--212},
}

@article{Umehara_2020,
	doi = {10.1111/ncn3.12427},
	url = {https://doi.org/10.1111%2Fncn3.12427},
	year = 2020,
	month = {jul},
	publisher = {Wiley},

@article{umehara_basal_2020,
	title = {Basal ganglia calcification in a patient with static encephalopathy of childhood with neurodegeneration in adulthood/\${\textbackslash}upbeta\$-propeller protein-associated neurodegeneration},

	url = {https://doi.org/10.1111%2Fncn3.12427},
	doi = {10.1111/ncn3.12427},

	journal = {Neurology \& Clinical Neurosc},
	author = {Umehara, Fujio and Iwama, Kazuhiro and Mizuguchi, Takeshi and Matsumoto, Naomichi},
	month = jul,
	year = {2020},
	note = {Publisher: Wiley},

	author = {Fujio Umehara and Kazuhiro Iwama and Takeshi Mizuguchi and Naomichi Matsumoto},
	title = {Basal ganglia calcification in a patient with static encephalopathy of childhood with neurodegeneration in adulthood/$\upbeta$-propeller protein-associated neurodegeneration},
	journal = {Neurology & Clinical Neurosc}

@article{Hattingen_2017,
	doi = {10.1007/s00062-017-0605-9},
	url = {https://doi.org/10.1007%2Fs00062-017-0605-9},
	year = 2017,
	month = {jun},
	publisher = {Springer Science and Business Media {LLC}},

@article{hattingen_clinical_2017,
	title = {Clinical and {Imaging} {Presentation} of a {Patient} with {Beta}-{Propeller} {Protein}-{Associated} {Neurodegeneration}, a {Rare} and {Sporadic} form of {Neurodegeneration} with {Brain} {Iron} {Accumulation} ({NBIA})},

	url = {https://doi.org/10.1007%2Fs00062-017-0605-9},
	doi = {10.1007/s00062-017-0605-9},

	journal = {Clin Neuroradiol},
	author = {Hattingen, Elke and Handke, Nikolaus and Cremer, Kirsten and Hoffjan, Sabine and Kukuk, Guido Matthias},
	month = jun,
	year = {2017},
	note = {Publisher: Springer Science and Business Media LLC},

	author = {Elke Hattingen and Nikolaus Handke and Kirsten Cremer and Sabine Hoffjan and Guido Matthias Kukuk},
	title = {Clinical and Imaging Presentation of a~Patient with Beta-Propeller Protein-Associated Neurodegeneration, a~Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation ({NBIA})},
	journal = {Clin Neuroradiol}

@article{Xixis_2016,

@article{xixis_epileptic_2016,
	title = {Epileptic spasms: a previously unreported manifestation of {WDR45} gene mutation},
	volume = {18},
	url = {https://doi.org/10.1684%2Fepd.2016.0840},

	url = {https://doi.org/10.1684%2Fepd.2016.0840},
	year = 2016,
	month = {sep},
	publisher = {John Libbey Eurotext},
	volume = {18},

	journal = {Epileptic Disorders},
	author = {Xixis, Kathryn I. and Mikati, Mohamad A.},
	month = sep,
	year = {2016},
	note = {Publisher: John Libbey Eurotext},

	author = {Kathryn I Xixis and Mohamad A Mikati},
	title = {Epileptic spasms: a previously unreported manifestation of {WDR}45 gene mutation},
	journal = {Epileptic Disorders}

@article{Endo_2017,
	doi = {10.1111/ncn3.12132},
	url = {https://doi.org/10.1111%2Fncn3.12132},
	year = 2017,
	month = {jun},
	publisher = {Wiley},

@article{endo_japanese_2017,
	title = {Japanese \${\textbackslash}less\$i\${\textbackslash}greater\$ \${\textbackslash}less\$scp\${\textbackslash}greater\${WDR}\${\textbackslash}less\$/scp\${\textbackslash}greater\$ 45 \${\textbackslash}less\$/i\${\textbackslash}greater\$ de novo mutation diagnosed by exome analysis: {A} case report},

	url = {https://doi.org/10.1111%2Fncn3.12132},
	doi = {10.1111/ncn3.12132},

	journal = {Neurology \& Clinical Neurosc},
	author = {Endo, Hironobu and Uenaka, Takeshi and Satake, Wataru and Suzuki, Yutaka and Tachibana, Hisatsugu and Chihara, Norio and Ueda, Takehiro and Sekiguchi, Kenji and Mariko, Taniguchi-Ikeda and Kowa, Hisatomo and Kanda, Fumio and Toda, Tatsushi},
	month = jun,
	year = {2017},
	note = {Publisher: Wiley},

	author = {Hironobu Endo and Takeshi Uenaka and Wataru Satake and Yutaka Suzuki and Hisatsugu Tachibana and Norio Chihara and Takehiro Ueda and Kenji Sekiguchi and Taniguchi-Ikeda Mariko and Hisatomo Kowa and Fumio Kanda and Tatsushi Toda},
	title = {Japanese
		            $\less$i$\greater$
		              $\less$scp$\greater${WDR}$\less$/scp$\greater$
		              45
		            $\less$/i$\greater$
		            de novo mutation diagnosed by exome analysis: A case report},
	journal = {Neurology & Clinical Neurosc}

}
@article{saffari_quantitative_2021,
	title = {Quantitative retrospective natural history modeling of {WDR45}-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases},
	volume = {0},
	issn = {1554-8627},
	url = {https://doi.org/10.1080/15548627.2021.1990671},
	doi = {10.1080/15548627.2021.1990671},
	abstract = {WDR45-related neurodevelopmental disorder (NDD) is a clinically-heterogenous congenital disorder of macroautophagy/autophagy. The natural history of this ultra-orphan disease remains incompletely understood, leading to delays in diagnosis and lack of quantifiable outcome measures. In this cross-sectional study, we model quantitative natural history data for WDR45-related NDD using a standardized analysis of 160 published cases, representing the largest cohort to date. The primary outcome of this study was survival. Age at disease onset, diagnostic delay and geographic distribution were quantified as secondary endpoints. Our tertiary aim was to explore and quantify the spectrum of WDR45-related phenotypes. Survival estimations showed low mortality until 39 years of age. Median age at onset was 10 months, with a median diagnostic delay of 6.2 years. Geographic distribution appeared worldwide with clusters in North America, East Asia, Western Europe and the Middle East. The clinical spectrum was highly variable with a bi-phasic evolution characterized by early-onset developmental and epileptic encephalopathy during childhood followed by a progressive dystonia-parkinsonism syndrome along with cognitive decline during early adulthood. Female individuals showed milder disease severity. The majority of pathogenic WDR45 variants were predicted to result in a loss of WDR45 expression, without clear genotype-phenotype associations. Our results provide clinical and epidemiological data that may facilitate an earlier diagnosis, enable anticipatory guidance and counseling of affected families and provide the foundation for endpoints for future interventional trials.Abbreviations: BPAN: beta-propeller protein-associated neurodegeneration; CNS: central nervous system; DEE: developmental and epileptic encephalopathy; MRI: magnetic resonance imaging; NBIA: neurodegeneration with brain iron accumulation; NDD: neurodevelopmental disorder; NGS: next-generation sequencing; WDR45/WIPI4: WD repeat domain 45},
	number = {0},
	urldate = {2022-04-16},
	journal = {Autophagy},
	author = {Saffari, Afshin and Schröter, Julian and Garbade, Sven F. and Alecu, Julian E. and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F. and Kölker, Stefan and Ries, Markus and Syrbe, Steffen},
	month = nov,
	year = {2021},
	pmid = {34818117},
	note = {Publisher: Taylor \& Francis
\_eprint: https://doi.org/10.1080/15548627.2021.1990671},
	keywords = {Beta-propeller protein-associated neurodegeneration, BPAN, congenital disorder of autophagy, DEE, NBIA, NBIA5, NDD, WDR45, WIPI4},
	pages = {1--13},
	file = {Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\SDB2GYAF\\15548627.2021.html:text/html},
}
@article{adang_phenotypic_2020-1,
	title = {Phenotypic and {Imaging} {Spectrum} {Associated} {With} {WDR45}},
	volume = {109},
	issn = {0887-8994},
	url = {https://www.sciencedirect.com/science/article/pii/S0887899420300849},
	doi = {10.1016/j.pediatrneurol.2020.03.005},
	abstract = {Background
Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. Global developmental delay occurs at an early age with slow progression to dystonia, parkinsonism, and dementia due to progressive iron accumulation in the brain.
Methods
We present 17 new cases and reviewed 106 reported cases of neurodegeneration with brain iron accumulation type 5. Detailed information related to developmental history and key time to event measures was collected.
Results
Within this cohort, there were 19 males. Most individuals were molecularly diagnosed by whole-exome testing. Overall 10 novel variants were identified across 11 subjects. All individuals were affected by developmental delay, most prominently in verbal skills. Most individuals experienced a decline in motor and cognitive skills. Although most individuals were affected by seizures, the spectrum ranged from provoked seizures to intractable epilepsy. The imaging findings varied as well, often evolving over time. The classic iron accumulation in the globus pallidus and substantia nigra was noted in half of our cohort and was associated with older age of image acquisition, whereas myelination abnormalities were associated with younger age.
Conclusions
WDR45 mutations lead to a progressive and evolving disorder whose diagnosis is often delayed. Developmental delay and seizures predominate in early childhood, followed by a progressive decline of neurological function. There is variable expressivity in the clinical phenotypes of individuals with WDR45 mutations, suggesting that this gene should be considered in the diagnostic evaluation of children with myelination abnormalities, iron deposition, developmental delay, and epilepsy depending on the age at evaluation.},
	language = {en},
	urldate = {2022-04-16},
	journal = {Pediatric Neurology},
	author = {Adang, Laura A. and Pizzino, Amy and Malhotra, Alka and Dubbs, Holly and Williams, Catherine and Sherbini, Omar and Anttonen, Anna-Kaisa and Lesca, Gaetan and Linnankivi, Tarja and Laurencin, Chloé and Milh, Matthieu and Perrine, Charles and Schaaf, Christian P. and Poulat, Anne-Lise and Ville, Dorothee and Hagelstrom, Tanner and Perry, Denise L. and Taft, Ryan J. and Goldstein, Amy and Vossough, Arastoo and Helbig, Ingo and Vanderver, Adeline},
	month = aug,
	year = {2020},
	keywords = {Developmental delay, Epileptic encephalopathy, Hypomyelination},
	pages = {56--62},
	file = {Accepted Version:C\:\\Users\\alexi\\Zotero\\storage\\L5TY68YL\\Adang et al. - 2020 - Phenotypic and Imaging Spectrum Associated With WD.pdf:application/pdf;ScienceDirect Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\48YH7696\\S0887899420300849.html:text/html},
}
@article{kulikovskaja_wdr45_2018,
	title = {{WDR45} mutations may cause a {MECP2} mutation-negative {Rett} syndrome phenotype},
	volume = {4},
	copyright = {Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.},
	issn = {2376-7839},
	url = {https://ng.neurology.org/content/4/2/e227},
	doi = {10.1212/NXG.0000000000000227},
	abstract = {Mutations in the autophagy-related WD domain repeat 45 ( WDR45 ) gene cause beta-propeller protein-associated neurodegeneration (BPAN), a distinct form of neurodegeneration with brain iron accumulation (NBIA).1,2 Clinical and imaging features comprise childhood-onset global developmental delay with further regression in early adulthood, progressive dystonia, parkinsonism, stereotypies, and iron deposition in the basal ganglia. Female and the few existing male patients show similar phenotypes, probably because of somatic mosaicism in males and skewed X-chromosome inactivation (XCI) in females, as WDR45 is located on Xp11.23. To date, about 60 cases have been reported, many of whom had a different initial clinical diagnosis.3 Hyperkinetic movements and stereotypies overlap with Rett syndrome features, another X-linked disorder most commonly caused by MECP2 mutations. Indeed, for 7\% of the reported cases of BPAN, the initial diagnosis was Rett syndrome,3 prompting us to perform the first mutational screen of the WDR45 gene in a large cohort of MECP2 mutation-negative Rett syndrome patients.},
	language = {en},
	number = {2},
	urldate = {2022-04-16},
	journal = {Neurology Genetics},
	author = {Kulikovskaja, Leonora and Sarajlija, Adrijan and Savic-Pavicevic, Dusanka and Dobricic, Valerija and Klein, Christine and Westenberger, Ana},
	month = apr,
	year = {2018},
	note = {Publisher: Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Section: Clinical/Scientific Notes},
	file = {Full Text PDF:C\:\\Users\\alexi\\Zotero\\storage\\9MZ5B4NW\\Kulikovskaja et al. - 2018 - WDR45 mutations may cause a MECP2 mutation-negativ.pdf:application/pdf;Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\ESG3IN9S\\e227.html:text/html},
}
@article{long_novel_2015,
	title = {Novel {WDR45} {Mutation} and {Pathognomonic} {BPAN} {Imaging} in a {Young} {Female} {With} {Mild} {Cognitive} {Delay}},
	volume = {136},
	issn = {0031-4005},
	url = {https://doi.org/10.1542/peds.2015-0750},
	doi = {10.1542/peds.2015-0750},
	abstract = {β-propeller protein-associated neurodegeneration (BPAN) is a recently identified X-linked dominant form of neurodegeneration with brain iron accumulation caused by mutations in the WDR45 gene. BPAN commonly presents as global developmental delay in childhood with rapid onset of parkinsonism and dementia in early adulthood and associated pathognomonic changes seen on brain MRI. In this case report, we present a pediatric patient with mild cognitive delay and pathognomonic MRI changes indicative of BPAN preceding neurologic deterioration who is found to have a novel de novo mutation in the WDR45 gene.},
	number = {3},
	urldate = {2022-04-16},
	journal = {Pediatrics},
	author = {Long, Michelle and Abdeen, Nishard and Geraghty, Michael T. and Hogarth, Penelope and Hayflick, Susan and Venkateswaran, Sunita},
	month = sep,
	year = {2015},
	pages = {e714--e717},
}
@article{ji_bpan_2021,
	title = {The {BPAN} and intellectual disability disease proteins {WDR45} and {WDR45B} modulate autophagosome-lysosome fusion},
	volume = {17},
	issn = {1554-8627},
	url = {https://doi.org/10.1080/15548627.2021.1924039},
	doi = {10.1080/15548627.2021.1924039},
	abstract = {WDR45 and WDR45B are β-propeller proteins belonging to the WIPI (WD repeat domain, phosphoinositide interacting) family. Mutations in WDR45 and WDR45B are genetically linked with beta-propeller protein-associated neurodegeneration (BPAN) and intellectual disability (ID), respectively. WDR45 and WDR45B are homologs of yeast Atg18. Atg18 forms a complex with Atg2 for autophagosome biogenesis, probably by transferring lipids from the ER to phagophores. We revealed that WDR45 and WDR45B are critical for autophagosome-lysosome fusion in neural cells. WDR45 and WDR45B, but not their disease-related mutants, bind to the tether protein EPG5 and facilitate its targeting to late endosomes/lysosomes. In Wdr45 Wdr45b-deficient cells, the formation of tether-SNARE fusion machinery is compromised. The macroautophagy/autophagy deficiency in wdr45 wdr45b DKO cells is ameliorated by suppression of O-GlcNAcylation, which promotes autophagosome maturation. Thus, our results provide insights into the pathogenesis of WDR45- and WDR45B-related neurological diseases.},
	number = {7},
	urldate = {2022-04-16},
	journal = {Autophagy},
	author = {Ji, Cuicui and Zhao, Yan G.},
	month = jul,
	year = {2021},
	pmid = {34105435},
	note = {Publisher: Taylor \& Francis
\_eprint: https://doi.org/10.1080/15548627.2021.1924039},
	keywords = {autophagosome maturation, Autophagy, BPAN, ID, WDR45, WDR45B},
	pages = {1783--1784},
	file = {Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\8Y3QM6A8\\15548627.2021.html:text/html},
}
@article{carvill_severe_2018,
	title = {Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene {WDR45}},
	volume = {59},
	issn = {1528-1167},
	url = {https://onlinelibrary.wiley.com/doi/abs/10.1111/epi.13957},
	doi = {10.1111/epi.13957},
	abstract = {Heterozygous de novo variants in the autophagy gene, WDR45, are found in beta-propeller protein-associated neurodegeneration (BPAN). BPAN is characterized by adolescent onset dementia and dystonia; 66\% patients have seizures. We asked whether WDR45 was associated with developmental and epileptic encephalopathy (DEE). We performed next generation sequencing of WDR45 in 655 patients with developmental and epileptic encephalopathies. We identified 3/655 patients with DEE plus 4 additional patients with de novo WDR45 pathogenic variants (6 truncations, 1 missense); all were female. Six presented with DEE and 1 with early onset focal seizures and profound regression. Median seizure onset was 12 months, 6 had multiple seizure types, and 5/7 had focal seizures. Three patients had magnetic resonance susceptibility-weighted imaging; blooming was noted in the globus pallidi and substantia nigra in the 2 older children aged 4 and 9 years, consistent with iron accumulation. We show that de novo pathogenic variants are associated with a range of developmental and epileptic encephalopathies with profound developmental consequences.},
	language = {en},
	number = {1},
	urldate = {2022-04-16},
	journal = {Epilepsia},
	author = {Carvill, Gemma L. and Liu, Aijie and Mandelstam, Simone and Schneider, Amy and Lacroix, Amy and Zemel, Matthew and McMahon, Jacinta M. and Bello-Espinosa, Luis and Mackay, Mark and Wallace, Geoffrey and Waak, Michaela and Zhang, Jing and Yang, Xiaoling and Malone, Stephen and Zhang, Yue-Hua and Mefford, Heather C. and Scheffer, Ingrid E.},
	year = {2018},
	note = {\_eprint: https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.13957},
	keywords = {de novo variant, DEE, genetics, magnetic resonance imaging},
	pages = {e5--e13},
	file = {Full Text PDF:C\:\\Users\\alexi\\Zotero\\storage\\NMISLX7K\\Carvill et al. - 2018 - Severe infantile onset developmental and epileptic.pdf:application/pdf;Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\3DLECNC7\\epi.html:text/html},
}
@article{chen_early_2019-1,
	title = {Early onset developmental delay and epilepsy in pediatric patients with {WDR45} variants},
	volume = {62},
	issn = {1769-7212},
	url = {https://www.sciencedirect.com/science/article/pii/S1769721217308790},
	doi = {10.1016/j.ejmg.2018.07.002},
	abstract = {Background
Developmental delay (DD) is a neurological disorder that presents with defects in gross motor, fine motor, language and cognition functions. WD repeat domain 45 (WDR45) is one of the disease-causing genes of DD. Previously, WDR45 de novo mutations were reported in certain adult and pediatric patients due to iron accumulation.
Clinical report
We report five pediatric female patients with DD and epilepsy. Their ages were below 3 years at the first consultation, and precise diagnoses were difficult based on the available clinical information and phenotype.
Methods
Children with DD and/or epilepsy presenting to the molecular diagnostic center of Children's Hospital of Fudan University between May 2016 and May 2017 were enrolled. The patients and their parents were subjected to whole-exome sequencing (WES), and we characterized the phenotypes of the patients carrying WDR45 variants. Furthermore, we overexpressed the candidate variants in HeLa cells and evaluated their effect on autophagy through Western blot and immunofluorescence staining with confocal microscopy.
Results
Five WDR45 de novo mutations, namely, c.19C {\textgreater} T (p.Arg7*), c.401G {\textgreater} C (p.Arg134Pro), c.503G {\textgreater} A (p.Gly168Glu), c.700C {\textgreater} T (p.Arg234*), and c.912delT (p.Ala305Leufs*25), were detected in 623 enrolled pediatric patients (274 females; 487 patients younger than 6 years). All five patients with WDR45 variants presented with DD and epilepsy. Compared with the control HeLa cells, the cells with the p. Arg134Pro and p. Gly168Glu missense mutations showed accumulation of LC3-containing autophagic structures and an abnormally enlarged cell volume, and Western blotting revealed a significant increase in LC3II/GAPDH.
Conclusion
The identification of WDR45 mutations provides further evidence that WES plays an important role in the diagnosis of neurological disorders with common phenotypes and that WDR45 mutations are associated with neurological disorders and are not very rare in Chinese female pediatric patients with DD and/or epilepsy. The diagnosis of patients with WDR45 mutations would enable more precise genetic counseling for the parents of these children.},
	language = {en},
	number = {2},
	urldate = {2022-04-16},
	journal = {European Journal of Medical Genetics},
	author = {Chen, Hongbo and Qian, Yanyan and Yu, Sha and Xiao, Deyong and Guo, Xiao and Wang, Qing and Hao, Lili and Yan, Kai and Lu, Yulan and Dong, Xinran and Zhou, Wenhao and Wu, Bingbing and Zhou, Shuizhen and Wang, Huijun},
	month = feb,
	year = {2019},
	keywords = {Developmental delay, Early onset, Epilepsy, Pediatric},
	pages = {149--160},
	file = {ScienceDirect Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\65BQLSKV\\S1769721217308790.html:text/html},
}
@article{xiong_functional_2019-1,
	title = {Functional evidence for a de novo mutation in {WDR45} leading to {BPAN} in a {Chinese} girl},
	volume = {7},
	issn = {2324-9269},
	url = {https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.858},
	doi = {10.1002/mgg3.858},
	abstract = {Background Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogenesis of BPAN. Previously, we reported a novel de novo mutation (c.1040\_1041del, p.Glu347GlyfsTer7) in WDR45 (NM\_007075) in a 3-year-old Chinese girl with BPAN. Methods The protein structure was constructed using SWISS-MODEL and the isoelectric point (pI) was predicted by the online pI/Mw tool at ExPASy. The functional effects of this mutation were predicted by two online software programs: PROVEN and MutationTaster. Stable overexpression of Flag-tagged wild-type or mutant WDR45 in HeLa cells was constructed. Protein levels of LC3 and p62 were analyzed by western blot upon treatment with/without autophagy inhibitor Bafilomycin A1, the formation of LC3 puncta were analyzed in HeLa cells transfected with mCherry-LC3 by confocal microscopy. Results The mutation resulted in a shift of pI from 6.74 to 8.84 and was predicted to be pathogenic. The protein levels of LC3-II and p62 were increased in cells overexpression of wild-type and mutant WDR45 while the protein levels were not increased in cells overexpression of mutant WDR45 upon treatment with autophagy inhibitor Bafilomycin A1. Results from confocal microscopy revealed that LC3-positive puncta were increased in cells expressing both wild-type and mutant WDR45 while the number of LC3-positive puncta was not increased in cells expressing mutant WDR45 upon treatment with Bafilomycin A1. Conclusion Our study evidenced that this novel mutation in WDR45 impaired autophagy in cells thus this mutation is the cause for BPAN in this patient.},
	language = {en},
	number = {9},
	urldate = {2022-04-16},
	journal = {Molecular Genetics \& Genomic Medicine},
	author = {Xiong, Qiuhong and Li, Wenjing and Li, Ping and Zhao, Zhonghua and Wu, Changxin and Xiao, Han},
	year = {2019},
	note = {\_eprint: https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.858},
	keywords = {autophagy, BPAN, novel mutation, WDR45},
	pages = {e858},
	file = {Full Text PDF:C\:\\Users\\alexi\\Zotero\\storage\\JAH8UYRZ\\Xiong et al. - 2019 - Functional evidence for a de novo mutation in WDR4.pdf:application/pdf;Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\N8MM7R6T\\mgg3.html:text/html},
}
@article{ozawa_novel_2014-1,
	title = {A novel {WDR45} mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood ({SENDA})},
	volume = {164},
	issn = {1552-4833},
	url = {https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.36635},
	doi = {10.1002/ajmg.a.36635},
	abstract = {Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in patients with SENDA. We report the clinical and neuroradiological findings of a patient with SENDA with a novel c.322del mutation in WDR45. In this patient, characteristic MRI findings were useful for diagnosis. © 2014 The Authors. American Journal of Medical Genetics published by Wiley Periodicals, Inc.},
	language = {en},
	number = {9},
	urldate = {2022-04-16},
	journal = {American Journal of Medical Genetics Part A},
	author = {Ozawa, Tadashi and Koide, Reiji and Nakata, Yasuhiro and Saitsu, Hirotomo and Matsumoto, Naomichi and Takahashi, Kazushi and Nakano, Imaharu and Orimo, Satoshi},
	year = {2014},
	note = {\_eprint: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.36635},
	keywords = {magnetic resonance imaging (MRI), static encephalopathy of childhood with neurodegenartion in adulthood (SENDA), WDR45},
	pages = {2388--2390},
	file = {Full Text PDF:C\:\\Users\\alexi\\Zotero\\storage\\QNRAM7NS\\Ozawa et al. - 2014 - A novel WDR45 mutation in a patient with static en.pdf:application/pdf;Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\BS8BRP33\\ajmg.a.html:text/html},
}
@article{morikawa_clinical_2017-1,
	title = {Clinical features of a female with {WDR45} mutation complicated by infantile spasms: a case report and literature review},
	volume = {39},
	issn = {0387-7604},
	shorttitle = {Clinical features of a female with {WDR45} mutation complicated by infantile spasms},
	url = {https://www.sciencedirect.com/science/article/pii/S0387760417301432},
	doi = {10.1016/j.braindev.2017.05.003},
	abstract = {We present a 3-year-old girl with beta-propeller protein-associated neurodegeneration (BPAN) who had a de novo heterozygous splice-site mutation of c.831-1G{\textgreater}C in WDR45 and developed infantile spasms; her onset age of infantile spasms was relatively late. Her infantile spasms and hypsarrhythmia disappeared promptly by adrenocorticotropic hormone therapy (CORTROSYN®Z, 0.0125mg/kg/day daily for 2weeks intramuscularly), though the administration of pyridoxal phosphate and valproic acid had poor efficacy. BPAN is known to be associated with various types of seizures, but there are few reports on infantile spasms, especially in females. To date, only 5 patients with BPAN have been reported to develop infantile spasms, and our patient is the second case in females. In this report, we showed that female patients with BPAN had milder phenotypic features than males: males developed intractable infantile spasms in early infancy, while females had treatable infantile spasms in late infancy.},
	language = {en},
	number = {9},
	urldate = {2022-04-16},
	journal = {Brain and Development},
	author = {Morikawa, Manami and Takano, Kyoko and Motobayashi, Mitsuo and Shiba, Naoko and Kosho, Tomoki and Nakazawa, Yozo and Inaba, Yuji},
	month = oct,
	year = {2017},
	keywords = {Adrenocorticotropic hormone therapy, Beta-propeller protein-associated neurodegeneration, Infantile spasms, West syndrome},
	pages = {804--807},
	file = {ScienceDirect Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\NUYWD386\\S0387760417301432.html:text/html},
}
@article{hermann_case_2017,
	title = {A {Case} of {Beta}-propeller {Protein}-associated {Neurodegeneration} due to a {Heterozygous} {Deletion} of {WDR45}},
	volume = {7},
	issn = {2160-8288},
	url = {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656753/},
	doi = {10.7916/D8251WB0},
	abstract = {Background
Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal. WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, and the disease has been renamed beta-propeller protein-associated neurodegeneration (BPAN).
Case Report
Here we describe a female patient suffering from a classical BPAN phenotype due to a novel heterozygous deletion of WDR45. An initial gene panel and Sanger sequencing approach failed to uncover the molecular defect. Based on the typical clinical and neuroimaging phenotype, quantitative polymerase chain reaction of the WDR45 coding regions was undertaken, and this showed a reduction of the gene dosage by 50\% compared with controls.
Discussion
An extended search for deletions should be performed in apparently WDR45-negative cases presenting with features of NBIA and should also be considered in young patients with predominant intellectual disabilities and hypertonia/parkinsonism/dystonia.},
	urldate = {2022-04-16},
	journal = {Tremor and Other Hyperkinetic Movements},
	author = {Hermann, Andreas and Kitzler, Hagen H. and Pollack, Tobias and Biskup, Saskia and Krüger, Stefanie and Funke, Claudia and Terrile, Caterina and Haack, Tobias B.},
	month = aug,
	year = {2017},
	pmid = {29082105},
	pmcid = {PMC5656753},
	pages = {465},
}
@article{khalifa_exome_2015,
	title = {Exome sequencing reveals a novel {WDR45} frameshift mutation and inherited {POLR3A} heterozygous variants in a female with a complex phenotype and mixed brain {MRI} findings},
	volume = {58},
	issn = {1769-7212},
	url = {https://www.sciencedirect.com/science/article/pii/S1769721215001135},
	doi = {10.1016/j.ejmg.2015.05.009},
	abstract = {WDR45 and POLR3A are newly recognized genes; each is associated with a distinct neurodegenerative disease. WDR45 is an X-linked gene associated with a dominant form of Neurodegeneration with Brain Iron Accumulation (NBIA), manifested by progressive disabilities, dystonia, cognitive decline, spastic paraplegia, neuropsychiatric abnormalities and iron deposition in the basal ganglia on brain imaging. POLR3A, on the other hand, is an autosomal gene, and its mutations cause a recessive form of a hypomyelination with leukodystrophy disease, also known as 4H syndrome, characterized by congenital Hypomyelination with thinning of the corpus callosum, Hypodontia and Hypogonadotropic Hypogonadism. We report on a female child with severe intellectual disability, aphasia, short stature, ataxia, failure to thrive and structural brain abnormalities. Brain MRI obtained in late infancy showed hypomyelination involving the central periventricular white matter and thinning of the corpus callosum with no evidence of iron accumulation. Brain MRI obtained in childhood showed stable hypomyelination, with progressive iron accumulation in the basal ganglia, in particular in the globus pallidus and substantia nigra. Whole Exome Sequencing (WES) identified a novel WDR45 frameshift deleterious mutation in Exon 9 (c.587-588del) and also revealed three POLR3A missense heterozygous variants. The first is a maternally inherited novel missense variant in exon 4 (c.346A {\textgreater} G). Exon 13 carried two heterozygous missense variants, a maternally inherited variant (c.1724A {\textgreater} T) and a paternally inherited variant (1745G {\textgreater} A). These variants are considered likely damaging. The patient's complex clinical phenotype and mixed brain MRI findings might be attributed to the confounding effects of the expression of these two mutant genes.},
	language = {en},
	number = {8},
	urldate = {2022-04-16},
	journal = {European Journal of Medical Genetics},
	author = {Khalifa, Mohamed and Naffaa, Lena},
	month = aug,
	year = {2015},
	keywords = {4H syndrome, Demyelinating disease, Leukodystrophy, NBIA, Whole exome sequencing},
	pages = {381--386},
}
@article{wynn_novel_2017,
	title = {A novel {WDR45} mutation in a patient with β-propeller protein-associated neurodegeneration},
	volume = {3},
	copyright = {Copyright © 2016 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.},
	issn = {2376-7839},
	url = {https://ng.neurology.org/content/3/1/e124},
	doi = {10.1212/NXG.0000000000000124},
	abstract = {Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic diseases characterized by progressive extrapyramidal symptoms and focal iron accumulation in the basal ganglia. β-Propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood or NBIA 5, is an X-linked dominant subtype of NBIA.1 Brain MRI studies consistently demonstrate iron accumulation in the globus pallidus and substantia nigra with a subset of patients also demonstrating a halo of hyperintense signal surrounding a thin region of hypointense signal in the substantia nigra on T1-weighted imaging.2 The majority of patients with BPAN are female, but several affected males with identical phenotypes have been described, most likely harboring postzygotic mutations leading to somatic mosaicism.3 BPAN has been shown to be caused by heterozygous mutations in WDR45 at Xp11.23. To date, all mutations have been de novo, with no affected relatives.1,3,4 We report here on a patient with BPAN with a novel c.597\_598 deletion mutation in WDR45.},
	language = {en},
	number = {1},
	urldate = {2022-04-16},
	journal = {Neurology Genetics},
	author = {Wynn, DonRaphael P. and Pulst, Stefan M.},
	month = feb,
	year = {2017},
	note = {Publisher: Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Section: Clinical/Scientific Notes},
	file = {Full Text PDF:C\:\\Users\\alexi\\Zotero\\storage\\84FSAWGA\\Wynn and Pulst - 2017 - A novel WDR45 mutation in a patient with β-propell.pdf:application/pdf;Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\9H3FUK4F\\e124.html:text/html},
}
@article{ryu_beta-propeller-protein-associated_2015,
	title = {Beta-{Propeller}-{Protein}-{Associated} {Neurodegeneration}: {A} {Case} of {Mutation} in {WDR45}},
	volume = {11},
	shorttitle = {Beta-{Propeller}-{Protein}-{Associated} {Neurodegeneration}},
	url = {https://synapse.koreamed.org/articles/1047886},
	doi = {10.3988/jcn.2015.11.3.289},
	number = {3},
	urldate = {2022-04-16},
	journal = {Journal of Clinical Neurology},
	author = {Ryu, Sook Won and Kim, Jang Su and Lee, Seung-Hwan},
	month = jul,
	year = {2015},
	note = {Publisher: Korean Neurological Association},
	pages = {289--291},
	file = {Full Text PDF:C\:\\Users\\alexi\\Zotero\\storage\\9C4ZFQ7S\\Ryu et al. - 2015 - Beta-Propeller-Protein-Associated Neurodegeneratio.pdf:application/pdf;Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\56842YQH\\1047886.html:text/html},
}
@article{biagosch_comprehensive_2021,
	title = {A comprehensive phenotypic characterization of a whole-body {Wdr45} knock-out mouse},
	volume = {32},
	issn = {1432-1777},
	url = {https://doi.org/10.1007/s00335-021-09875-3},
	doi = {10.1007/s00335-021-09875-3},
	abstract = {Pathogenic variants in the WDR45 (OMIM: 300,526) gene on chromosome Xp11 are the genetic cause of a rare neurological disorder characterized by increased iron deposition in the basal ganglia. As WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, the disease has been named Beta-Propeller Protein-Associated Neurodegeneration (BPAN). BPAN represents one of the four most common forms of Neurodegeneration with Brain Iron Accumulation (NBIA). In the current study, we generated and characterized a whole-body Wdr45 knock-out (KO) mouse model. The model, developed using TALENs, presents a 20-bp deletion in exon 2 of Wdr45. Homozygous females and hemizygous males are viable, proving that systemic depletion of Wdr45 does not impair viability and male fertility in mice. The in-depth phenotypic characterization of the mouse model revealed neuropathology signs at four months of age, neurodegeneration progressing with ageing, hearing and visual impairment, specific haematological alterations, but no brain iron accumulation. Biochemically, Wdr45 KO mice presented with decreased complex I (CI) activity in the brain, suggesting that mitochondrial dysfunction accompanies Wdr45 deficiency. Overall, the systemic Wdr45 KO described here complements the two mouse models previously reported in the literature (PMIDs: 26,000,824, 31,204,559) and represents an additional robust model to investigate the pathophysiology of BPAN and to test therapeutic strategies for the disease.},
	language = {en},
	number = {5},
	urldate = {2022-04-16},
	journal = {Mammalian Genome},
	author = {Biagosch, Caroline A. and Vidali, Silvia and Faerberboeck, Michael and Hensler, Svenja-Viola and Becker, Lore and Amarie, Oana V. and Aguilar-Pimentel, Antonio and Garrett, Lillian and Klein-Rodewald, Tanja and Rathkolb, Birgit and Zanuttigh, Enrica and Calzada-Wack, Julia and da Silva-Buttkus, Patricia and Rozman, Jan and Treise, Irina and Fuchs, Helmut and Gailus-Durner, Valerie and de Angelis, Martin Hrabě and Janik, Dirk and Wurst, Wolfgang and Mayr, Johannes A. and Klopstock, Thomas and Meitinger, Thomas and Prokisch, Holger and Iuso, Arcangela},
	month = oct,
	year = {2021},
	pages = {332--349},
	file = {Full Text PDF:C\:\\Users\\alexi\\Zotero\\storage\\PMBAGL9Q\\Biagosch et al. - 2021 - A comprehensive phenotypic characterization of a w.pdf:application/pdf},
}
@article{araujo_novel_2017,
	title = {Novel {WDR45} mutation causing beta-propeller protein associated neurodegeneration ({BPAN}) in two monozygotic twins},
	volume = {264},
	issn = {1432-1459},
	url = {https://doi.org/10.1007/s00415-017-8475-2},
	doi = {10.1007/s00415-017-8475-2},
	language = {en},
	number = {5},
	urldate = {2022-04-16},
	journal = {Journal of Neurology},
	author = {Araújo, Rui and Garabal, Ana and Baptista, Mariana and Carvalho, Sílvia and Pinho, Crisbety and de Sá, Joaquim and Vasconcelos, Mónica},
	month = may,
	year = {2017},
	keywords = {Cerebral Peduncle, Halo Sign, Intellectual Disability, Risperidone, Substantia Nigra},
	pages = {1020--1022},
}
@article{christoforou_early-onset_2020,
	title = {Early-onset presentation of a new subtype of β-{Propeller} protein-associated neurodegeneration ({BPAN}) caused by a de novo {WDR45} deletion in a 6 year-old female patient},
	volume = {63},
	issn = {1769-7212},
	url = {https://www.sciencedirect.com/science/article/pii/S1769721219302253},
	doi = {10.1016/j.ejmg.2019.103765},
	abstract = {Neurodegeneration with brain iron accumulation (NBIA) comprises a group of rare genetic disorders characterized by progressive extrapyramidal and other neurological symptoms due to focal iron accumulation in the basal ganglia (Adidi et al., 2016). β-Propeller protein-associated neurodegeneration (BPAN) is the most recently identified subtype of NBIA caused by heterozygous variants in WDR45 (OMIM: *300526) at Xp11.23. We report the clinical neurophysiological and neuro-imaging findings of a new subtype of BPAN in a 6 year-old female patient, who was identified to have a large de novo WDR45 deletion who presented in the first year of life with early onset global developmental delay, severe cognitive impairment, generalized hypotonia and a corticosteroid responsive epileptic encephalopathy.},
	language = {en},
	number = {3},
	urldate = {2022-04-16},
	journal = {European Journal of Medical Genetics},
	author = {Christoforou, Stephanie and Christodoulou, Kyproula and Anastasiadou, Violetta and Nicolaides, Paola},
	month = mar,
	year = {2020},
	keywords = {BPAN, deletion, Developmental delay, Epileptic encephalopathy, ESES, NBIA},
	pages = {103765},
}
@article{willoughby_functional_2018,
	title = {Functional {mRNA} analysis reveals aberrant splicing caused by novel intronic mutation in {WDR45} in {NBIA} patient},
	volume = {176},
	issn = {1552-4833},
	url = {https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38656},
	doi = {10.1002/ajmg.a.38656},
	abstract = {WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood.},
	language = {en},
	number = {5},
	urldate = {2022-04-16},
	journal = {American Journal of Medical Genetics Part A},
	author = {Willoughby, Josh and Duff-Farrier, Celia and Desurkar, Archana and Kurian, Manju and Raghavan, Ashok and Study, D. D. D. and Balasubramanian, Meena},
	year = {2018},
	note = {\_eprint: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38656},
	keywords = {cultured fibroblasts, in silico analysis, intronic, iron accumulation, MRI-brain, mRNA analysis, mutation, splicing, WDR45},
	pages = {1049--1054},
	file = {Submitted Version:C\:\\Users\\alexi\\Zotero\\storage\\9YFDH79X\\Willoughby et al. - 2018 - Functional mRNA analysis reveals aberrant splicing.pdf:application/pdf},

@article{spiegel_severe_2016,
	title = {Severe infantile male encephalopathy is a result of early post-zygotic {WDR45} somatic mutation},
	volume = {90},
	issn = {1399-0004},
	url = {https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.12849},
	doi = {10.1111/cge.12849},
	language = {en},
	number = {6},
	urldate = {2022-04-16},
	journal = {Clinical Genetics},
	author = {Spiegel, R. and Shalev, S. and Bercovich, D. and Rabinovich, D. and Khayat, M. and Shaag, A. and Elpeleg, O.},
	year = {2016},
	note = {\_eprint: https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12849},
	pages = {560--562},
	file = {Snapshot:C\:\\Users\\alexi\\Zotero\\storage\\68N593JK\\cge.html:text/html},
}
@article{redon_intragenic_2017,
	title = {Intragenic deletion of the {WDR45} gene in a male with encephalopathy, severe psychomotor disability, and epilepsy},
	volume = {173},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.38180},
	language = {eng},
	number = {5},
	journal = {American Journal of Medical Genetics. Part A},
	author = {Redon, Sylvia and Benech, Caroline and Schutz, Sacha and Despres, Aurore and Gueguen, Paul and Le Berre, Pauline and Le Marechal, Cédric and Peudenier, Sylviane and Meriot, Philippe and Parent, Philippe and Ferec, Claude},
	month = may,
	year = {2017},
	pmid = {28371320},
	keywords = {Alleles, Brain, Brain Diseases, Carrier Proteins, Child, Codon, Epilepsy, Genotype, Humans, Magnetic Resonance Imaging, Male, Phenotype, Psychomotor Disorders, Sequence Deletion, Severity of Illness Index},
	pages = {1444--1446},
}