Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan

Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan

Background: Dravet syndrome is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy and SCN1A gene mutations. In some cases, non-SCN1A gene mutations can present with a phenotype very similar to that of Dravet syndrome....

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Detaylı Bibliyografya
Asıl Yazarlar: Yi-Hsuan Liu, Yi-Ting Cheng, Meng-Han Tsai, I-Jun Chou, Po-Cheng Hung, Meng-Ying Hsieh, Yi-Shan Wang, Yun-Ju Chen, Cheng-Yen Kuo, Jainn-Jim Lin, Huei-Shyong Wang, Kuang-Lin Lin
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Elsevier 2021-09-01
Seri Bilgileri:Pediatrics and Neonatology
Konular:
dravet syndrome
epileptic encephalopathy
fever-sensitive seizures
SCN1Amutation
status epilepticus
Online Erişim:http://www.sciencedirect.com/science/article/pii/S1875957221001066

Internet

http://www.sciencedirect.com/science/article/pii/S1875957221001066

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