Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings

BackgroundPathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from...

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Bibliographic Details
Main Authors: Mustafa A. Salih, Albandary AlBakheet, Rawan Almass, Ahlam A. A. Hamed, Ali AlOdaib, Namik Kaya
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Psychiatry
Subjects:
ALDH7A1
novel variant
pyridoxine-dependent epilepsy
intellectual disability
neonatal seizures
Online Access:https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1501238/full
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