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Type: Journal article
Title: Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Author: Scheffer, I.
Zhang, Y.
Jansen, F.
Dibbens, L.
Citation: Brain and Development, 2009; 31(5):394-400
Publisher: Elsevier Science BV
Issue Date: 2009
ISSN: 0387-7604
Statement of
Ingrid E. Scheffer, Yue-Hua Zhang, Floor E. Jansen, Leanne Dibbens
Abstract: Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due to 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 1 subunit, SCN1B, and the GABA(A) receptor gamma 2 subunit, GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be due 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.
Keywords: Humans
Epilepsies, Myoclonic
Epilepsy, Generalized
Seizures, Febrile
Genetic Predisposition to Disease
Sodium Channels
Receptors, GABA-A
Nerve Tissue Proteins
Brain Chemistry
Mutation, Missense
NAV1.1 Voltage-Gated Sodium Channel
Voltage-Gated Sodium Channel beta-1 Subunit
Description: Copyright © 2009 Elsevier B.V. All rights reserved.
DOI: 10.1016/j.braindev.2009.01.001
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Appears in Collections:Aurora harvest 5
Paediatrics publications

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