Yüklüyor......

Dravet syndrome: a new causative SCN1A mutation?

Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Clin Case Rep
Asıl Yazarlar: Poryo, Martin, Clasen, Oriana, Oehl‐Jaschkowitz, Barbara, Christmann, Alexander, Gortner, Ludwig, Meyer, Sascha
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2017
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5412774/
https://ncbi.nlm.nih.gov/pubmed/28469861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.787
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!