Article
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Annals of neurology - 1 Jun 2018
Winawer Melodie R, Griffin Nicole G, Samanamud Jorge, Baugh Evan H, Rathakrishnan Dinesh, Ramalingam Senthilmurugan, Zagzag David, Schevon Catherine A, Dugan Patricia, Hegde Manu, Sheth Sameer A, McKhann Guy M, Doyle Werner K, Grant Gerald A, Porter Brenda E, Mikati Mohamad A, Muh Carrie R, Malone Colin D, Bergin Ann Marie R, Peters Jurriaan M, McBrian Danielle K, Pack Alison M, Akman Cigdem I, LaCoursiere Christopher M, Keever Katherine M, Madsen Joseph R, Yang Edward, Lidov Hart G W, Shain Catherine, Allen Andrew S, Canoll Peter D, Crino Peter B, Poduri Annapurna H, Heinzen Erin L
Abstract excerpt
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 nonlesional 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...
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