* Introduction

* TODO Introduction

** Function

** Function (see [cite:@cong_wdr45_2021] )
- protein structure : N-terminal beta-propeller (definition)
- autophagy
- endoplasmic reticulum homeostasis
- mitochondrial alteration (morphology and function)
- iron homeostasis

- BPAN
- Rett-like syndrome
- intellectual disability
- developmental and epileptic encephalopathy
- early-onset epileptic encephalopathy (EOEE) and West syndrome,
(the number of cases reported in given in [cite:@cong_wdr45_2021] )

* Syndrome de West
In about 35% of cases, the etiologic event is (still) unknown:
others = structural, infectious, metabolic and immunologic defects and genetic abnormalities
 may be prenatal, perinatal, and post-natal period.
 ischemic encephalopathy is reported as one of the most common causes of ISs.
 “United Kingdom Infantile Spasms Study” (UKISS) [14],  hypoxic-ischemic encephalopathy was reported in 10%, followed by chromosomal abnormalities, complex malformation syndromes and perinatal stroke (8%), tuberous sclerosis (7%), and periventricular leukomalacia or hemorrhage (respectively, in 5%)
Source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655587/