Article

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy

2021-06-20

Abstract excerpt

FZR1 , which encodes the Cdh1 subunit of the Anaphase Promoting Complex, plays an important role in neurodevelopment by regulating cell cycle and by its multiple post-mitotic functions in neurons. In this study, evaluation of 250 unrelated patients with developmental epileptic encephalopathies (DEE) and a connection on GeneMatcher led to the identification of three de novo missense variants in FZR1 . Two variants...

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Literature Corpus work: 84f81185-0295-59bd-8d3e-0ce4170f7cff
DOI: 10.1101/2021.06.12.21256778

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<i>De novo FZR1</i> loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy

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