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Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Epilepsia - 1 Jul 2014

Ohba Chihiro, Kato Mitsuhiro, Takahashi Satoru, Lerman-Sagie Tally, Lev Dorit, Terashima Hiroshi, Kubota Masaya, Kawawaki Hisashi, Matsufuji Mayumi, Kojima Yasuko, Tateno Akihiko, Goldberg-Stern Hadassa, Straussberg Rachel, Marom Dafna, Leshinsky-Silver Esther, Nakashima Mitsuko, Nishiyama Kiyomi, Tsurusaki Yoshinori, Miyake Noriko, Tanaka Fumiaki, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

OBJECTIVE: De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven patients with de novo heterozygous SCN8A mutations, which were found in our comprehensive genetic analysis (target capture or whole-exome sequencing) for early onset epileptic encephalopathies (EOEEs). METHODS: A total of 163 patients with EOEEs without mutations in known genes, including 6 with...

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PMID: 24888894
DOI: 10.1111/epi.12668

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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