期刊
BRAIN & DEVELOPMENT
卷 31, 期 5, 页码 394-400出版社
ELSEVIER
DOI: 10.1016/j.braindev.2009.01.001
关键词
Dravet syndrome; SMEI; GEFS; Febrile seizures; SCN1A; SCN1B; GABRG2
Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due 10 mutations of SCN1A. the gene encoding the alpha 1 pore-forming subunit of the sodium channel. GEFS+ refers to a familial epilepsy syndrome where at least two family members have phenotypes that fit within the GEFS+ spectrum. The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. More than 70%,, of patients with Dravet syndrome have mutations of SCN1A these include both truncation and missense mutations. In contrast, only 10% of GEFS+ families have SCN1A mutations and these comprise missense mutations. GEFS+ has also been associated with mutations Of genes encoding the sodium channel beta I subunit. SCN1B. and the GABA(A) receptor gamma 2 subunit. GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be clue to modifier genes. Interpretation of the significance of a. SCN1A missense mutation requires a thorough understanding of the phenotypes in the GEFS+ spectrum whereas a de novo truncation mutation is likely to be associated with a severe phenotype. Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome. (C) 2009 Elsevier B.V. All rights reserved.
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