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Article

The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.

Epilepsia - 1 Sept 2016

Barker Bryan S, Ottolini Matteo, Wagnon Jacy L, Hollander Rachel M, Meisler Miriam H, Patel Manoj K

Abstract excerpt

OBJECTIVE: SCN8A encephalopathy (early infantile epileptic encephalopathy; EIEE13) is caused by gain-of-function mutations resulting in hyperactivity of the voltage-gated sodium channel Nav 1.6. The channel is concentrated at the axon initial segment (AIS) and is involved in establishing neuronal excitability. Clinical features of SCN8A encephalopathy include seizure onset between 0 and 18 months of age,...

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Source

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Identifiers

PMID: 27375106
DOI: 10.1111/epi.13461
PMCID: PMC5012949

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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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