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SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

18 Sept 2017

Abstract excerpt

BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on...

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PMID: 28923014
DOI: 10.1186/s12881-017-0460-1

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