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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Опубликовано в: :Neurology
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Lippincott Williams & Wilkins 2018
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Article
Online-ссылка: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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