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Article

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.

Seizure - 1 Sept 2009

Mahoney Krista, Moore Susan J, Buckley David, Alam Muhammed, Parfrey Patrick, Penney Sharon, Merner Nancy, Hodgkinson Kathy, Young Terry-Lynn

Abstract excerpt

PURPOSE: To describe the spectrum of clinical disease in a mutliplex family with an autosomal dominant form of generalized epilepsy with febrile seizures plus (GEFS+) and determine its genetic etiology. METHODS: Medical and family history was obtained on 11 clinically affected individuals and their relatives across three generations through medical chart review and home visits. A candidate gene approach including...

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Identifiers

PMID: 19464195
DOI: 10.1016/j.seizure.2009.04.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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