Novel homozygous truncating DNM1 variants identified as genetic cause of developmental and epileptic encephalopathy (DEE)


Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K
J Med Genet. 2021 Jun 25:jmedgenet-2021-107769. doi: 10.1136/jmedgenet-2021-107769. Epub ahead of print.

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