Article

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by <i>de novo</i> KCNC2 variants

2022-02-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Next-generation whole exome sequencing (WES) is ubiquitous as an early step in the diagnosis of rare diseases and the interpretation of variants of unknown significance (VUS). Developmental and epileptic encephalopathies (DEE) are a group of rare devastating epilepsies, many of which have unknown causes. Increasing WES in the clinic has identified several rare monogenic DEEs c...

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Literature Corpus work: c2dcbc21-d618-508f-8496-31c2f02aaa6a
DOI: 10.1101/2022.02.01.21268115

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