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Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.

Genes, brain, and behavior - 1 Mar 2012

Shi Y-W, Yu M-J, Long Y-S, Qin B, He N, Meng H, Liu X-R, Deng W-Y, Gao M-M, Yi Y-H, Li B-M, Liao W-P

Abstract excerpt

SCN1A is the most relevant epilepsy gene. Mutations of SCN1A generate phenotypes ranging from the extremely severe form of Dravet syndrome (DS) to a mild form of generalized epilepsy with febrile seizures plus (GEFS+). Mosaic SCN1A mutations have been identified in rare familial DS. It is suspected that mosaic mutations of SCN1A may cause other types of familial epilepsies with febrile seizures (FS), which are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22151702
DOI: 10.1111/j.1601-183X.2011.00756.x

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