Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.

Menno D StellingwerffCorinne NultonGuy HelmanStefan D RoosendaalWilliam S BenkoAmy PizzinoMarianna BugianiAdeline VanderverCas SimonsMarjo S van der Knaap

Published in: Neuropediatrics (2022)

variants may cause a vascular leukoencephalopathy, distinct from CADASIL.

Keyphrases

early onset
late onset
copy number
cell proliferation
genome wide
dna methylation