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

visual-dnm1-en

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.

Kontaktieren Sie uns

We're not around right now. But you can send us an email and we'll get back to you, asap.

Not readable? Change text. captcha txt

Start typing and press Enter to search