SCAF4 variants are associated with epilepsy with neurodevelopmental disorders

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

Seizure: European Journal of Epilepsy(2023)

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摘要
•Three heterozygous variants in the SCAF4 were detected in three unrelated epilepsy cases.•The SCAF4 variants and related phenotypes were systematically reviewed from the PubMed database and the Human Gene Mutation Database.
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关键词
SCAF4,Epilepsy,Trio-based whole-exome sequencing
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