Article

Loss-of-function variants in the <i>KCNQ5</i> gene are associated with genetic generalized epilepsies

2021-04-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> De novo missense variants in KCNQ5 , encoding the voltage-gated K + channel K V 7.5, have been described as a cause of developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disease-related KCNQ5 variants in genetic generalized epilepsy (GGE) and their underlying mechanisms. <h4>Methods</h4> 1292 families with GGE were studied b...

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Literature Corpus work: 6dc8a1cf-42f9-523e-aa86-fadb3f4ec9dd
DOI: 10.1101/2021.04.20.21255696

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