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Article

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.

Journal of child neurology - 1 Feb 2014

Goldberg-Stern Hadassa, Aharoni Sharon, Afawi Zaid, Bennett Odeya, Appenzeller Silke, Pendziwiat Manuela, Kuhlenbäumer Gregor, Basel-Vanagaite Lina, Shuper Avinoam, Korczyn Amos D, Helbig Ingo

Abstract excerpt

Genetic (generalized) epilepsy with febrile seizures plus is a familial epilepsy syndrome with marked phenotypic heterogeneity ranging from simple febrile seizure to severe phenotypes. Here we report on a large Israeli family with genetic (generalized) epilepsy with febrile seizures plus and 14 affected individuals. A novel SCN1A missense mutation in exon 21 (p.K1372E) was identified in all affected individuals...

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Identifiers

PMID: 24257433
DOI: 10.1177/0883073813509016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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