Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

PURPOSE: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. MATERIALS AND METHODS: We...

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Detalles Bibliográficos
Autores principales: Özmen, Meral, Dilber, Cengiz, Tatlı, Burak, Aydınlı, Nur, Çalışkan, Mine, Ekici, Barış
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200039/
https://www.ncbi.nlm.nih.gov/pubmed/22028529
http://dx.doi.org/10.4103/0972-2327.85879

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200039/
https://www.ncbi.nlm.nih.gov/pubmed/22028529
http://dx.doi.org/10.4103/0972-2327.85879

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