Spectrum of K_V2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel KV 2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous functional studies on a limited number of KCNB1 variants indicated a range of molecular mechanisms by which variants affect channel function, including loss of voltage sensitivity, loss of ion selectivity, and reduced cell-surface expression.We evaluated a series of 17 KCNB1 variants...