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Article

Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.

Proceedings of the National Academy of Sciences of the United States of America - 28 Feb 2017

Lopez-Santiago Luis F, Yuan Yukun, Wagnon Jacy L, Hull Jacob M, Frasier Chad R, O'Malley Heather A, Meisler Miriam H, Isom Lori L

Abstract excerpt

Patients with early infantile epileptic encephalopathy (EIEE) experience severe seizures and cognitive impairment and are at increased risk for sudden unexpected death in epilepsy (SUDEP). EIEE13 [Online Mendelian Inheritance in Man (OMIM) # 614558] is caused by de novo missense mutations in the voltage-gated sodium channel gene SCN8A Here, we investigated the neuronal phenotype of a mouse model expressing the...

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Identifiers

PMID: 28193882
DOI: 10.1073/pnas.1616821114
PMCID: PMC5338511

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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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