Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
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Author / Creator
Depienne, C , Trouillard, O , Saint-Martin, C , Gourfinkel-An, I , Bouteiller, D , Carpentier, W , Keren, B , Abert, B , Gautier, A , Baulac, S , Arzimanoglou, A , Cazeneuve, C , Nabbout, R and LeGuern, E
Publisher
London: BMJ Publishing Group Ltd
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Language
English
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Publisher
London: BMJ Publishing Group Ltd
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Scope and Contents
Contents
Introduction:Mutations in the voltage-gated sodium channel SCN1A gene are the main genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy or SMEI).Objective:To characterise in more detail the mutation spectrum associated with Dravet syndrome.Methods:A large series of 333 patients was screened using both direct sequ...
Alternative Titles
Full title
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
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Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02566795v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02566795v1
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.2008.062323
