De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Fiche publication


Date publication

août 2018

Journal

Genetics in medicine : official journal of the American College of Medical Genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Pr PHILIPPE Christophe, Pr THAUVIN-ROBINET Christel, Dr DUPLOMB-JEGO Laurence


Tous les auteurs :
Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A

Résumé

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 disorders.

Mots clés

IRF2BPL, data sharing, developmental epileptic encephalopathies, exome sequencing

Référence

Genet. Med.. 2018 Aug 31;: