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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2009-4-23
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pubmed:abstractText |
SCN1A is the most clinically relevant epilepsy gene and is associated with generalized epilepsy and febrile seizure plus (GEFS+) and Dravet syndrome. We postulated that earlier onset of febrile seizures in the febrile seizure (FS) and febrile seizure plus (FS+) phenotypes may occur in the presence of a SCN1A mutation. This was because of the age-related onset of Dravet syndrome, which typically begins in the first year of life. We found that patients with FS and FS+ with SCN1A mutations had earlier median onset of febrile seizures compared to the population median. Patients with GABRG2 mutations had a similar early onset in contrast to patients with SCN1B mutations where onset was later. This study is the first to demonstrate that a specific genetic abnormality directly influences the FS and FS+ phenotype in terms of age of onset.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1528-1167
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pubmed:author |
pubmed-author:AshalataRadhakrishnanR,
pubmed-author:BadawyRadwa A BRA,
pubmed-author:BerkovicSamuel FSF,
pubmed-author:DibbensLeanneL,
pubmed-author:Lerman-SagieTallyT,
pubmed-author:LevDoritD,
pubmed-author:MazaribAzizA,
pubmed-author:SchefferIngrid EIE,
pubmed-author:SijbenAngelique E JAE,
pubmed-author:SithinamsuwanPasiriP,
pubmed-author:StraussbergRachelR
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pubmed:issnType |
Electronic
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pubmed:volume |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
953-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19292758-Age of Onset,
pubmed-meshheading:19292758-Child,
pubmed-meshheading:19292758-Child, Preschool,
pubmed-meshheading:19292758-Confidence Intervals,
pubmed-meshheading:19292758-DNA Mutational Analysis,
pubmed-meshheading:19292758-Electroencephalography,
pubmed-meshheading:19292758-Epilepsy, Generalized,
pubmed-meshheading:19292758-Family Health,
pubmed-meshheading:19292758-Female,
pubmed-meshheading:19292758-Humans,
pubmed-meshheading:19292758-Infant,
pubmed-meshheading:19292758-Male,
pubmed-meshheading:19292758-Mutation,
pubmed-meshheading:19292758-Nerve Tissue Proteins,
pubmed-meshheading:19292758-Receptors, GABA-A,
pubmed-meshheading:19292758-Seizures, Febrile,
pubmed-meshheading:19292758-Sodium Channels,
pubmed-meshheading:19292758-Statistics, Nonparametric
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pubmed:year |
2009
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pubmed:articleTitle |
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
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pubmed:affiliation |
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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