Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

OBJECTIVE: To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. METHODS: We identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures (EIMFS) and screened for variants in...

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Detaylı Bibliyografya
Yayımlandı:Neurology
Asıl Yazarlar: McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2018
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5754647/
https://ncbi.nlm.nih.gov/pubmed/29196579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004762
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