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A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

Annals of clinical and laboratory science - 1 Nov 2017

Han Ji Yoon, Jang Ja Hyun, Lee In Goo, Shin Soyoung, Park Joonhong

Abstract excerpt

Mutations in SCN8A, which codes for the voltage-gated sodium channel NaV1.6, have been described in relation to infantile onset epilepsy with developmental delay and cognitive impairment. Here, we report the case of an infant and her father with early onset benign familial infantile epilepsy, but without cognitive or neurological impairment. In this patient, diagnostic exome sequencing (DES) identified a...

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PMID: 29263050

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DES

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

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