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SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

Epilepsia - 1 Mar 2015

Kong Weijing, Zhang Yujia, Gao Yang, Liu Xiaoyan, Gao Kai, Xie Han, Wang Jingmin, Wu Ye, Zhang Yuehua, Wu Xiru, Jiang Yuwu

Abstract excerpt

OBJECTIVE: Mutations in SCN8A, a voltage-gated sodium-channel type VIII alpha subunit gene, have recently been recognized as one of the pathogenic mechanisms leading to epilepsy and intellectual/developmental disabilities (IDDs). The aim of this study was to detect SCN8A mutations in Chinese patients with epilepsy of unknown etiology and ID/DD. METHODS: We used targeted next-generation sequencing to identify...

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PMID: 25785782
DOI: 10.1111/epi.12925

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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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