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Article

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2015

Takahashi Satoru, Yamamoto Shiho, Okayama Akie, Araki Akiko, Saitsu Hirotomo, Matsumoto Naomichi, Azuma Hiroshi

Abstract excerpt

Voltage-gated sodium channel Nav 1.6, encoded by the gene SCN8A, plays a crucial role in controlling neuronal excitability. SCN8A mutations that cause increased channel activity are associated with seizures. We describe a patient with epileptic encephalopathy caused by de novo SCN8A mutation (c.5614C>T, p.Arg1872Trp). Seizures began 10 days after birth at which time brain magnetic resonance imaging (MRI) and...

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PMID: 25951352
DOI: 10.1111/ped.12622

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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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