Article
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Brain : a journal of neurology - 3 Jun 2022
Manivannan Sathiya N, Roovers Jolien, Smal Noor, Myers Candace T, Turkdogan Dilsad, Roelens Filip, Kanca Oguz, Chung Hyung-Lok, Scholz Tasja, Hermann Katharina, Bierhals Tatjana, Caglayan Hande S, Stamberger Hannah, Mefford Heather, de Jonghe Peter, Yamamoto Shinya, Weckhuysen Sarah, Bellen Hugo J
Abstract excerpt
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. Whole-exome...
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