Petersen AK, Streff H, Tokita M, Bostwick BL

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.

Am J Med Genet A 176:1667-1669 (2018)
DOI:10.1002/ajmg.a.38835

Suls A, Jaehn JA, Kecskes A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djemie T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Moller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbaumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Am J Hum Genet 93:967-75 (2013)
DOI:10.1016/j.ajhg.2013.09.017

Carvill G, Helbig I, Mefford H

CHD2-Related Neurodevelopmental Disorders

GeneReviews (1993)