FZR1, which encodes the Cdh1 subunit of the Anaphase Promoting Complex, plays an important role in neurodevelopment by regulating the cell cycle and by its multiple post-mitotic functions in neurons. In this study, evaluation of 250 unrelated patients with developmental and epileptic encephalopathies and a connection on GeneMatcher led to the identification of three de novo missense variants in FZR1.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies / Sathiya N Manivannan , Jolien Roovers , Noor Smal , Candace T Myers , Dilsad Turkdogan , Filip Roelens , Oguz Kanca , Hyung-Lok Chung, Tasja Scholz , Katharina Hermann , Tatjana Bierhals , Hande S Caglayan , Hannah Stamberger , MAE working group of EuroEPINOMICS RES Consortium; Heather Mefford , Peter de Jonghe , Shinya Yamamoto , Sarah Weckhuysen , Hugo J Bellen , Renzo Guerrini. - In: BRAIN. - ISSN 1460-2156. - ELETTRONICO. - (2021), pp. 0-0. [10.1093/brain/awab409]
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
Renzo Guerrini
2021
Abstract
FZR1, which encodes the Cdh1 subunit of the Anaphase Promoting Complex, plays an important role in neurodevelopment by regulating the cell cycle and by its multiple post-mitotic functions in neurons. In this study, evaluation of 250 unrelated patients with developmental and epileptic encephalopathies and a connection on GeneMatcher led to the identification of three de novo missense variants in FZR1.
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