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Article

SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.

Epilepsia - 1 Dec 2019

Mantegazza Massimo, Broccoli Vania

Abstract excerpt

Pathogenic SCN1A/NaV 1.1 mutations cause well-defined epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and the severe epileptic encephalopathy Dravet syndrome. In addition, they cause a severe form of migraine with aura, familial hemiplegic migraine. Moreover, SCN1A/NaV 1.1 variants have been inferred as risk factors in other types of epilepsy. We review here the advancements obtained...

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Identifiers

PMID: 31904127
DOI: 10.1111/epi.14700

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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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