Article

<i>KCNH1</i> variants associated with neurodevelopmental disorders exhibit prominent gain-of-function

2026-02-10

Abstract excerpt

Pathogenic variants in KCNH1 , encoding the human ether-á-go-go voltage-gated potassium channel (EAG1, K V 10.1), are associated with the neurodevelopmental disorders Temple-Baraitser syndrome (TBS), Zimmermann-Laband syndrome (ZLS), and epileptic encephalopathy. Investigating the functional consequences of KCNH1 variants can provide information about molecular and cellular pathophysiological mechanisms, and he...

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Literature Corpus work: ddb89174-d5d5-562e-95cc-0f8018921a5d
DOI: 10.64898/2026.02.09.704863

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