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Article

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.

Proceedings of the National Academy of Sciences of the United States of America - 22 Oct 2013

Cestèle Sandrine, Schiavon Emanuele, Rusconi Raffaella, Franceschetti Silvana, Mantegazza Massimo

Abstract excerpt

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Mutations causing FHM type 3 have been identified in SCN1A, the gene encoding the Nav1.1 Na(+) channel, which is also a major target of epileptogenic mutations and is particularly important for the excitability of GABAerg...

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Identifiers

PMID: 24101488
DOI: 10.1073/pnas.1309827110
PMCID: PMC3808640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24101488-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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