Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1

Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1

BackgroundThe gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetic...

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Bibliographic Details
Main Authors: Lu Wang, Haiquan Xu, Jianbo Shu, Dandan Yan, Dong Li, Chunquan Cai
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Pediatrics
Subjects:
children
de novo variant
epilepsy
GABRB1
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1346987/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1346987/full

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