Article
Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression.
The Journal of physiology - 1 Dec 2023
Mínguez-Viñas Teresa, Prakash Varsha, Wang Kaiqian, Lindström Sarah H, Pozzi Serena, Scott Stuart A, Spiteri Elizabeth, Stevenson David A, Ashley Euan A, Gunnarsson Cecilia, Pantazis Antonios
Abstract excerpt
Two KCNA2 variants (p.H310Y and p.H310R) were discovered in paediatric patients with epilepsy and developmental delay. KCNA2 encodes KV 1.2-channel subunits, which regulate neuronal excitability. Both gain and loss of KV 1.2 function cause epilepsy, precluding the prediction of variant effects; and while H310 is conserved throughout the KV -channel superfamily, it is largely understudied. We investigated both...
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