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https://hdl.handle.net/2440/51121
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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 1872-7131 |
Statement of Responsibility: | 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 Syndrome Genetic Predisposition to Disease Sodium Channels Receptors, GABA-A Nerve Tissue Proteins Brain Chemistry Mutation, Missense Infant 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 |
Description (link): | http://www.elsevier.com/wps/find/journaldescription.cws_home/524172/description#description |
Published version: | http://dx.doi.org/10.1016/j.braindev.2009.01.001 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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