Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy
(2017)
Journal Article
McTague, A., Nair, U., Malhotra, S., Meyer, E., Trump, N., Gazina, E. V., …Kurian, M. A. (2018). Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology, 90(1), Article e1-e12. https://doi.org/10.1212/WNL.0000000000004762
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...
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