KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. KCNH1 is a member of voltage-gated potassium channel proteins and is involved in fundamental cellular and developmental processes. Both diseases are caused by gain of function missense mutations, which arise in mutational hotspots that tend to affect highly conserved residues in the second half (C terminal) of the protein. These variants lower the activation threshold of the mutant voltage-gated potassium channel and delaying its deactivation.
KCNH1