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CADASIL type 1 with cysteine-sparing P572L mutation on exon 11 presenting as focal onset epilepsy: a case report

Abstract Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small-vessel disease, typically with adult-onset. It is most often caused by NOTCH3 mutations that involve cysteine residues. Cases of CADAS...

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Principais autores: Yumei Geng, Huimin Li, Zhenli Guo, Yunhan Tao, Huicong Kang
פורמט: Artigo
שפה:Inglês
יצא לאור: SpringerOpen 2026-06-01
סדרה:Egyptian Journal of Medical Human Genetics
נושאים:
CADASIL
Autosomal dominant
NOTCH3
Cysteine-sparing mutation
Seizure
Pro572Leu
גישה מקוונת:https://doi.org/10.1186/s43042-026-00890-0
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