Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

Epileptic Disorders - 2010
Dimitar N. Azmanov1, Sashka Zhelyazkova2, P Dimova3, Melania Radionova2, V. Bojinova3, Laura Flórez1, S. J. M. Smith4, Ivailo Tournev5,2, Assen Jablensky6, John C. Mulley7, Ingrid E. Scheffer8,9, Luba Kalaydjieva1, Josemir W. Sander4,10
1Laboratory for Molecular Genetics Centre for Medical Research and Western Australian Institute for Medical Research The University of Western Australia Perth Australia
2Department of Neurology Medical University Sofia Bulgaria
3Clinic of Child Neurology St. Naum University Hospital of Neurology and Psychiatry Medical University Sofia Bulgaria
4Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, United Kingdom
5Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria
6The University of Western Australia
7Epilepsy Research Program Women's and Children's Hospital Adelaide Australia
8Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
9Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Melbourne, Australia
10SEIN ‐ Epilepsy Institute of the Netherlands Foundation Heemstede The Netherlands

Tóm tắt

ABSTRACTSCN1A

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.

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Epileptic Disorders

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