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Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family Volume 12, numéro 2, June 2010

Auteurs
Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia, Department of Neurology, Medical University, Sofia, Bulgaria, Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Medical University, Sofia, Bulgaria, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, United Kingdom, Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria, School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Perth, Australia, Epilepsy Research Program, Women's and Children's Hospital, Adelaide, Australia, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia, Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Melbourne, Australia, SEIN – Epilepsy Institute of the Netherlands Foundation, Heemstede, The Netherlands

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.