Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures

Voltage-gated potassium (Kv) channels control excitability and firing properties of neurons and muscle cells[1], and Kv channel dysfunction can result in pathophysiological states, including epilepsy and cardiac arrhythmia[2,3]. Kv channels are classified into 12 subfamilies (Kv1-12) encoded by a number of gene families, and each Kv channel gene encodes a specific α-subunit (see Gutman et al. (2005) for a comprehensive overview[4]). Ether-à-go-go (EAG) channels (Kv10, Kv11, and Kv12), which are encoded by the KCNH gene family[4,5], represent a structurally and functionally distinct group of Kv channels.

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