Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, Evan H Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A Schevon, Patricia Dugan, Manu Hegde, Sameer A Sheth, Guy M McKhann, Werner K Doyle, Gerald A Grant, Brenda E Porter, Mohamad A Mikati, Carrie R Muh, Colin D Malone, Ann Marie R Bergin, Jurriaan M Peters, Danielle K McBrian, Alison M Pack, Cigdem I Akman, Christopher M LaCoursiere, Katherine M Keever, Joseph R Madsen, Edward Yang, Hart G W Lidov, Catherine Shain, Andrew S Allen, Peter Canoll, Peter B Crino, Annapurna H Poduri, Erin L Heinzen
OBJECTIVE Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including non-lesional focal epilepsy (NLFE). Through genetic analysis of brain tissue, we evaluated the role of somatic variation in focal epilepsy with and without MCD. METHODS We identified somatic variants through high-depth exome and ultra-high-depth candidate gene sequencing of DNA from epilepsy surgery specimens and leukocytes from 18 individuals with NLFE and 38 with focal MCD...
April 20, 2018: Annals of Neurology