apraga/org - Change 4LBCU33RX5GHMWDXKU6OCIEUADCY4LDBPXBW6O26SHPXERT65WMQC

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Created by Alexis Praga on April 17, 2022

4LBCU33RX5GHMWDXKU6OCIEUADCY4LDBPXBW6O26SHPXERT65WMQC

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Replacement in todo.org at line 63 [6.117455]
∅:D[4.53] → [5.98:151]
∅:D[7.59] → [5.98:151]
∅:D[3.859] → [5.98:151]
B:BD[5.98] → [5.98:151]
∅:D[5.151] → [8.100:128]
B:BD[6.119221] → [8.100:128]
```
* TODO Appeler pour demander carte médecin internat
SCHEDULED: <2022-04-14 Thu>
```
[3.859]
[5.206]
```
* DONE Appeler pour demander carte médecin internat
CLOSED: [2022-04-17 Sun 18:20] SCHEDULED: <2022-04-14 Thu>
```

Replacement in todo.org at line 76 [6.117455]

B:BD[9.253] → [9.253:317]

B:BD[9.317] → [4.54:114]

** TODO Utiliser chèque Chuullanka
SCHEDULED: <2022-04-17 Sun>
** TODO Déclaration de revenus
SCHEDULED: <2022-04-17 Sun>

[9.253]

[7.60]

** DONE Utiliser chèque Chuullanka
CLOSED: [2022-04-17 Sun 18:20] SCHEDULED: <2022-04-17 Sun>
** WAIT Déclaration de revenus
SCHEDULED: <2022-04-24 Sun>

Replacement in recherche/wdr45/notes.org at line 86 [11.20]

B:BD[10.38] → [2.20:189]

** WAIT [#A] review 160 cases !!!!! @saffari021
  pas sur scihub....
  demande faite sur researchgate
** TODO [#A] review 106 cas + 17 new cases (males)  !!
  adang2020

[10.38]

[2.189]

** TODO [#A] review 160 cases, 109 variants @saffari021
SCHEDULED: <2022-04-18 Mon>
87 papers
Seizure is a core feature of BPAN, contrary to NBIA but not all patientsa have them : 80% have seizures ( 84% of males.)
Starts a bit earlier and diagnosied earlier in the male -> more severe ?
Cerebral : only 62% have iron deposit
Pros: huge review, HPO normalization
Cons: Mean age at last follow-up = 13 with survival 100% in the boys
** TODO [#A] @adang2020 review 106 cases 17 new cases (males)  !!
SCHEDULED: <2022-04-18 Mon>

Replacement in recherche/wdr45/notes.org at line 97 [11.20]

B:BD[2.234] → [2.234:281]

** TODO 40 patients, 2 males Kulikovskaja 2018

[2.234]

[2.281]

** TODO [#A] [cite:@Cong_2021] review 140 variants + 15 unclassified
SCHEDULED: <2022-04-18 Mon>
of WDR45 : 93 patients, 84 women, 9 males with sch
Less variants than Saffari ??
** TODO 40 patients, 2 males @Kulikovskaja2018

Insertion in recherche/wdr45/notes.org at line 103 [11.20]
[2.299]
[2.299]
```
** TODO physio @ji2021
```
Deletion in recherche/wdr45/notes.org at line 108 [11.20]
B:BD[2.453] → [2.453:476]
```
** TODO physio @ji2021
```

Replacement in recherche/wdr45/notes.org at line 126 [11.20]

B:BD[2.1081] → [2.1081:1956]

** 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**

[2.1081]

[10.2938]

** [cite:@Aring_2021] physiopathology model for WDR45 deficit
** 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**

Replacement in recherche/wdr45/notes.org at line 138 [11.20]

B:BD[10.2973] → [2.1957:2353]

** 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

[10.2973]

[2.2353]

** [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
  *O 1 case report https://www.thieme-connect.com/products/ejournals/html/10.1055/s-0041-1739626
** [cite:@Endo_2017] 1 case report, woman

Replacement in recherche/wdr45/notes.org at line 147 [11.20]

B:BD[10.3505] → [2.2415:3567]

** 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

[10.3505]

[2.3567]

** 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

Replacement in recherche/wdr45/notes.org at line 166 [11.20]

B:BD[2.3824] → [2.3824:3900]

** DONE [cite:@saitsu2013] nouveau phénotype WDR45 5 patients -> TODO data

[2.3824]

[2.3900]

** TODO [cite:@saitsu2013] nouveau phénotype WDR45 5 patients -> TODO data