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Article

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.

Epilepsia - 1 May 2013

Cestèle Sandrine, Labate Angelo, Rusconi Raffaella, Tarantino Patrizia, Mumoli Laura, Franceschetti Silvana, Annesi Grazia, Mantegazza Massimo, Gambardella Antonio

Abstract excerpt

PURPOSE: To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism. METHODS: The five affected individuals underwent detailed clinical analyses. Mutation analyses was performed by direct sequencing of SCN1A; functional studies by expression in tsA-201 cells. A computational...

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PMID: 23398611
DOI: 10.1111/epi.12123

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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