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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754647/
https://www.ncbi.nlm.nih.gov/pubmed/29196579
http://dx.doi.org/10.1212/WNL.0000000000004762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754647/
https://www.ncbi.nlm.nih.gov/pubmed/29196579
http://dx.doi.org/10.1212/WNL.0000000000004762

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