Article
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
American journal of medical genetics. Part A - 1 Feb 2022
De Maria Beatrice, Balestrini Simona, Mei Davide, Melani Federico, Pellacani Simona, Pisano Tiziana, Rosati Anna, Scaturro Giusi M, Giordano Lucio, Cantalupo Gaetano, Fontana Elena, Zammarchi Cristina, Said Edith, Leuzzi Vincenzo, Mastrangelo Mario, Galosi Serena, Parrini Elena, Guerrini Renzo
Abstract excerpt
CHD2 encodes the chromodomain helicase DNA-binding protein 2, an ATP-dependent enzyme that acts as a chromatin remodeler. CHD2 pathogenic variants have been associated with various early onset phenotypes including developmental and epileptic encephalopathy, self-limiting or pharmacoresponsive epilepsies and neurodevelopmental disorders without epilepsy. We reviewed 84 previously reported patients carrying 76...
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