Table 1

K+ channel genes associated with neurological and cardiac disorders in human and mouse

K+ channel gene Human disease Mouse model Common mutations
KCNA1 Episodic ataxia type 1V408A; R239S; V174F; F249I; F184C; E325D; T226A; V404I; I176R
KCNE1 Long QT syndrome type 1S74L, D76N
KCNQ1 Long QT syndrome type 13 nucleotides deletion (TCG in codon 72); A83P; G189R; R95Q; V159M; L178F; G211R; T217I; A341E; A341V; G250E; G219S; R555C; W305S; A300T; R518T; A529T; 3 bp deletion (F339); 9 bp deletion del373-381
HERG Long QT syndrome type 21 bp deletion (1261); 27 bp deletion (1500); A561V; N470D; I593R; V822M; G628S; R582C
KCNJ6(GIRK2)WeaverG156S
KCNQ2 Benign familial neonatal convulsionsY284C, A306T; 2 bp insertion (283 ins GT); 13 bp deletion at amino acid 522; 1 bp deletion, del2513G
KCNQ3 Benign familial neonatal convulsionsG263V