Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/62641
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Type: Journal article
Title: Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family
Author: Azmanov, D.
Zhelyazkova, S.
Dimova, P.
Radionova, M.
Bojinova, V.
Florez, L.
Smith, S.
Tournev, I.
Jablensky, A.
Mulley, J.
Scheffer, I.
Kalaydjieva, L.
Sander, J.
Citation: Epileptic Disorders: international epilepsy journal with videotape, 2010; 12(2):117-124
Publisher: John Libbey Eurotext Ltd
Issue Date: 2010
ISSN: 1294-9361
1950-6945
Statement of
Responsibility: 
Dimitar N Azmanov, Sashka Zhelyazkova, Petya S Dimova, Melania Radionova, Veneta Bojinova, Laura Florez, Shelagh J Smith, Ivailo Tournev, Assen Jablensky, John Mulley, Ingrid Scheffer, Luba Kalaydjieva, Josemir W Sander
Abstract: SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases involving truncating mutations or gene rearrangements. We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome. Mosaicism may be more common than assumed and should be considered regardless of the nature of the mutation.
Keywords: Dravet syndrome
GEFS+
SCN1A
mutation
mosaicism
febrile seizures plus
borderline SMEI
Rights: Copyright status unknown
DOI: 10.1684/epd.2010.0311
Appears in Collections:Aurora harvest 5
Paediatrics publications

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