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DOI: 10.1055/s-0029-1234083
© Georg Thieme Verlag KG Stuttgart · New York
An Inherited Nonsense R1645X Mutation in Neuronal Sodium Channel α1-Subunit Gene in a Turkish Patient with Severe Myoclonic Epilepsy of Infancy
Publication History
received 03.11.2008
accepted 07.07.2009
Publication Date:
06 October 2009 (online)
Abstract
Severe myoclonic epilepsy of infancy (SMEI) is a well-known catastrophic epileptic syndrome. Several mutations of the sodium channel alpha 1 subunit (SCN1A ) gene were reported in patients with SMEI. Most of the mutations were de novo. Inherited truncating mutations are very rare. Here a patient with a new nonsense mutation (c.4933 C>T; p.R1645X) of the gene is described. This mutation was inherited from the father who had only febrile seizures during childhood.
Key words
severe myoclonic epilepsy of infancy - sodium channel alpha 1 subunit - inherited mutation - nonsense
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Correspondence
Prof. Sarenur Go˘kben
Department of Pediatrics
Ege University
Faculty of Medicine
Bornova
Izmir 35100
Turkey
Phone: +90/232/390 1012
Fax: +90/232/390 1357
Email: sarenur.gokben@ege.edu.tr