Robert J Carton, Michael G Doyle, Hugh Kearney, Charles A Steward, Nicholas J Lench, Anthony Rogers, Erin L Heinzen, Seamus McDonald, Joanna Fay, Austin Lacey, Alan Beausang, Jane Cryan, Francesca Brett, Hany El-Naggar, Peter Widdess-Walsh, Daniel Costello, Ronan Kilbride, Colin P Doherty, Kieron J Sweeney, Donncha F O'Brien, David C Henshall, Norman Delanty, Gianpiero L Cavalleri, Katherine A Benson
OBJECTIVE: The contribution of somatic variants to epilepsy has recently been demonstrated, particularly in the etiology of malformations of cortical development. The aim of this study was to determine the diagnostic yield of somatic variants in genes that have been previously associated with a somatic or germline epilepsy model, ascertained from resected brain tissue from patients with multidrug-resistant focal epilepsy. METHODS: Forty-two patients were recruited across three categories: (1) malformations of cortical development, (2) mesial temporal lobe epilepsy with hippocampal sclerosis, and (3) nonlesional focal epilepsy...
March 16, 2024: Epilepsia