Article
Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.
Annals of clinical and translational neurology - 1 Jul 2021
Wolking Stefan, Moreau Claudia, McCormack Mark, Krause Roland, Krenn Martin, Berkovic Samuel, Cavalleri Gianpiero L, Delanty Norman, Depondt Chantal, Johnson Michael R, Koeleman Bobby P C, Kunz Wolfram S, Lerche Holger, Marson Anthony G, O'Brien Terence J, Petrovski Slave, Sander Josemir W, Sills Graeme J, Striano Pasquale, Zara Federico, Zimprich Fritz, Sisodiya Sanjay M, Girard Simon L, Cossette Patrick
Abstract excerpt
OBJECTIVE: Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug-resistant epilepsy remains unchanged. In this study, we aimed to investigate the role of rare genetic variants in ASM resistance. METHODS: We performed exome sequencing of 1,128 individuals with non-familial...
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