** TODO [#A] review 160 cases, 109 variants @saffari021
SCHEDULED: <2022-04-18 Mon>

** DONE [#A] review 160 cases, 109 variants @saffari021

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 ?

Seizure is a core feature of BPAN, contrary to NBIA but not all patients have them : 80% have seizures ( 84% of males.)
Starts a bit earlier and diagnosed earlier in the male -> more severe ?

** TODO mouse model @biagosch2021
** DONE [cite:@Aring_2021] physiopathology model for WDR45 deficit
** DONE [cite:@Lee_iron_2021] follow-up of Lee2021
same variant
"suggested" that functional and structural changes resulted
in impaired lipid metabolism, mitochondrial disorder, and unbalanced autophagy fluxes, c
** [cite:@lee_autophagic_2021] c.977-1G>A effet autophage fibroblaste
** @seibler2018 fonctionnal on WDR45 and PLA2G6 variant
- WDR45 (c.519+1_519+3delGTG; NM_007075.3)
- PLA2G6 (c.91 G>A; NM_003560.2)

** TODO mouse model @biagosch2021

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

** [cite:@Lee_iron_2021] c.974-1G>A étude fibroblaste
** [cite:@lee_autophagic_2021] c.977-1G>A effet autophage fibroblaste