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Article

Genotype-phenotype associations in SCN1A-related epilepsies.

Neurology - 15 Feb 2011

Zuberi S M, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes G H

Abstract excerpt

OBJECTIVE: Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome. Our objective was to examine whether the nature of a SCN1A mutation affects the epilepsy phenotype. METHODS: We retrospectively evaluated clinical and genetic data from 273 individuals with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21248271
DOI: 10.1212/WNL.0b013e31820c309b

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