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

Purpose: Mutations of the a-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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Detaylı Bibliyografya
Asıl Yazarlar: Meral Özmen, Cengiz Dilber, Burak Tatli, Nur Aydinli, Mine Çaliskan, Baris Ekici
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications 2011-01-01
Seri Bilgileri:Annals of Indian Academy of Neurology
Konular:
Online Erişim:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2011;volume=14;issue=3;spage=178;epage=181;aulast=Özmen
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