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J Child Neurol. 2014 Feb;29(2):221-6. doi: 10.1177/0883073813509016. Epub 2013 Nov 20.

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

Author information

1
1Department of Pediatric and Adolescent Neurology, Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Abstract

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 and 3 unaffected carriers. The proband had Dravet syndrome, whereas febrile seizure plus phenotypes were present in all other affected family members. Simple febrile seizures were not observed. Phenotypes were found at both extremes of the genetic (generalized) epilepsy with febrile seizures plus spectrum and distribution of phenotypes suggested modifying familial, possibly genetic factors. We suggest that families with extreme phenotype distributions can represent prime candidates for the identification of genetic or environmental modifiers.

KEYWORDS:

GEFS+; SCN1A; epilepsy genetics; febrile seizure

PMID:
24257433
DOI:
10.1177/0883073813509016
[Indexed for MEDLINE]

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