Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/10764
Title: Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Austin Authors: Scheffer, Ingrid E ;Zhang, Yue-Hua;Jansen, Floor E;Dibbens, Leanne M
Affiliation: Department of Medicine, The University of Melbourne, Austin Health, Victoria, Australia
Issue Date: 8-Feb-2009
Publication information: Brain & Development 2009; 31(5): 394-400
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.
Gov't Doc #: 19203856
URI: https://ahro.austin.org.au/austinjspui/handle/1/10764
DOI: 10.1016/j.braindev.2009.01.001
Journal: Brain & development
URL: https://pubmed.ncbi.nlm.nih.gov/19203856
Type: Journal Article
Subjects: Brain Chemistry.genetics
Epilepsies, Myoclonic.genetics.metabolism.physiopathology
Epilepsy, Generalized.genetics.metabolism.physiopathology
Genetic Predisposition to Disease.genetics
Humans
Infant
Mutation, Missense.genetics
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins.genetics
Receptors, GABA-A.genetics
Seizures, Febrile.genetics.metabolism.physiopathology
Sodium Channels.genetics
Syndrome
Voltage-Gated Sodium Channel beta-1 Subunit
Appears in Collections:Journal articles

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