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Article

SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.

Seizure - 1 Mar 2024

Hu Yuanyuan, Zhang Bingbing, Chen Li, He Jing, Yang Letian, Chen Xuqin

Abstract excerpt

AIMS: The genetic causes of epilepsy with unknown etiology in most patients remain unknown. The aim of this study was to elucidate the phenotype of SCAF4-related epilepsy. METHODS: Trio-based whole-exome sequencing was performed in patients with epilepsy. Silico programs and protein modeling were employed to predict the damaging of variants. Previously reported SCAF4 variants were systematically reviewed to...

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Identifiers

PMID: 37891035
DOI: 10.1016/j.seizure.2023.10.008

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