Article
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019
Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard M J, Oegema R, Nava C, Masurel A, Jouan T, Jansen F E, Au M, Chen Agnes H, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto Julián A, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham J M, Friedman J, Faivre L, Lin H J, Thauvin-Robinet C, Vitobello A
Abstract excerpt
PURPOSE: Developmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral abilities preceded, accompanied or followed by seizures. Because DEEs are clinically and genetically heterogeneous, next-generation sequencing, especially exome sequencing (ES), is becoming a first-tier strategy to identify the molecular etiologies of these...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.