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This Article Full Text Full Text (PDF) CME: Take the course for this article: Volume 67, Number 12, December 26, 2006 Italian Translation Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Jansen, F. E. Articles by Berkovic, S. F. Search for Related Content PubMed PubMed Citation Articles by Jansen, F. E. Articles by Berkovic, S. F. Related Collections Myoclonus All Epilepsy/Seizures

Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults

From the Epilepsy Research Centre (F.E.J., L.V., J.M.McM., I.E.S., S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Department of Genetic Medicine (L.A.H., J.C.M.), Women's and Children's Hospital, Adelaide, Department of Neurology (L.V.), Canberra Hospital, and Department of Paediatrics (I.E.S.), University of Melbourne and Royal Children's Hospital Melbourne, Australia; Rudolph Magnus Institute of Neurosciences (F.E.J.), Department of Neurology, University Medical Centre Utrecht, the Netherlands; and Departments of Pediatrics (L.G.S.), Capital Coast Health and University of Otago, Wellington, New Zealand.

Address correspondence and reprint requests to Dr Berkovic, Epilepsy Research Centre, Heidelberg Repatriation Hospital, Banksia Street, West Heidelberg, Victoria, Australia 3081; e-mail: s.berkovic{at}unimelb.edu.au

Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous seizure types with nocturnal generalized tonic-clonic seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.

F.E. Jansen was supported by a grant of the Jan Meerwaldt Foundation. Grant support is acknowledged from the National Health and Medical Research Council and Bionomics Ltd.

Disclosure: S.F. Berkovic, I.E. Scheffer, and J.C. Mulley have received research support and honoraria from Bionomics Ltd., which has licensed a diagnostic test for SCN1A.

Received January 30, 2006. Accepted in final form September 1, 2006.

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