Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

Autor: Johannes R. Lemke, Susanne B. Kamphausen, Rikke S. Møller, Payal S. Panchal, Miriam H. Meisler, Samantha M. Strohm, Jörn Lange, Jacy L. Wagnon, Manoj K. Patel, Elena Gardella, Katrine M Johannesen, Ilona Krey, Cathrine E. Tronhjem, Eric R. Wengert, Hayley Petit, Anusha U. Saga, Guido Rubboli

Publikováno v: Wengert, E R, Tronhjem, C E, Wagnon, J L, Johannesen, K M, Petit, H, Krey, I, Saga, A U, Panchal, P S, Strohm, S M, Lange, J, Kamphausen, S B, Rubboli, G, Lemke, J R, Gardella, E, Patel, M K, Meisler, M H & Møller, R S 2019, ' Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy ', Epilepsia, vol. 60, no. 11, pp. 2277-2285 . https://doi.org/10.1111/epi.16371
Epilepsia

Objective: Monoallelic de novo gain-of-function variants in the voltage-gated sodium channel SCN8A are one of the recurrent causes of severe developmental and epileptic encephalopathy (DEE). In addition, a small number of de novo or inherited monoall

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https://findresearcher.sdu.dk:8443/ws/files/170699550/epi.16371.pdf