High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies - Myers, Candace T.; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; et al. (American journal of human genetics, 2017)
Keywords: Brain Diseases - genetics; Child; Child, Preschool; CLTC; DHDDS; Epilepsy - genetics; epileptic encephalopathy; Female; GABBR2; GABRB2; Genome, Human - genetics; Genome-Wide Association Study - methods; Human health and pathology; Humans; Intellectual Disability - genetics; Life Sciences; Male; Mutation - genetics; NTRK2; NUS1; RAB11; Recurrence; Seizures - genetics; SNAP25; NTRK2; GABRB2; GABBR2; NUS1; RAB11; SNAP25; CLTC; epileptic encephalopathy; DHDDS; nogo-b receptor; disorders; medical genetics; disease; severe intellectual disability; cis-prenyltransferase; diphosphate synthase; children; glycosylation; structural basis