Article

Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy

2022-04-28

Abstract excerpt

<h4>Objective</h4> KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants. <h4>Methods</h4> We screened 893 individuals with developmental and epileptic encephalopathies (DEEs) for KCNH5 variants using targeted or exome sequencing. Additional individuals with KCNH5 variants were identified t...

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Literature Corpus work: 6bcde6b3-4271-5f46-a7a1-c5f77695f609
DOI: 10.1101/2022.04.26.22274147

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