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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 |
Published version: | http://dx.doi.org/10.1684/epd.2010.0311 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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