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Article

Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.

Seizure - 1 Apr 2024

Feng Wei-Xing, Wang Xiao-Fei, Wu Yun, Li Xing-Meng, Chen Shu-Hua, Wang Xiao-Hui, Wang Zi-Han, Fang Fang, Chen Chun-Hong

Abstract excerpt

PURPOSE: PAFAH1B1, also known as LIS1, is associated with type I lissencephaly in humans, which is a severe developmental brain disorder believed to result from abnormal neuronal migration. Our objective was to characterize the genotypes and phenotypes of PAFAH1B1-related epilepsy. METHODS: We conducted a comprehensive analysis of the medical histories, magnetic resonance imaging findings, and...

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Identifiers

PMID: 38364333
DOI: 10.1016/j.seizure.2024.01.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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