Table 3. S6 channelopathies of voltage-dependent K+ channels
ChannelGeneUnitary cond. Tissue expressionS6 limitsMutationDiseaseReference
pS
Kv1.1KCNA18.7–20Central nervous system, kidney, and heart387–415V404I, V408AEpisodic ataxiaEA1Browne et al., 1994; Scheffer et al., 1998
Kv1.2KCNA214–18Neocortex, hippocampus, main olfactory bulb, and cerebellum389–417P405LEarly infantile epileptic encephalopathy, 32EIEE32Syrbe et al., 2015
Kv2.1KCNB114Hippocampal neurons and cortical neurons392–420G401REarly infantile epileptic encephalopathy, 26EIEE26Saitsu et al., 2015
Kv3.3KCNC332–38Cerebellum, basal ganglia, and spinal cord518–539V535MSpinocerebellar ataxia 13SCA13Duarri et al., 2015
Kv4.3KCND34Substantia nigra pars compact, retrosplenial cortex, superior colliculus, the raphe nuclei and amygdala, olfactory bulb, and dentate gyrus382–402S390N; V392ISpinocerebellar ataxia 19; Brugada syndromeSCA19; BRGDA9Duarri et al., 2012; Giudicessi et al., 2012
Kv7.1KCNQ10.7–4Heart, uterus, stomach, small and large intestine, kidney and pancreas; smooth muscle328–348F339Y, A341E/G/V, L342F, P343L/R/S, A344E/V, G345E/RLong QT síndrome type 1LQT1Jongbloed et al., 1999; Tester et al., 2005; Kapplinger et al., 2009
Kv7.2KCNQ26.5Hippocampal and cortical neurons292–312A306TBenign familial neonatal seizuresBFNS1Singh et al., 2003
Kv7.4KCNQ42.1Brain, cochlea, heart, and skeletal muscle; neuron derived from embryonic stem cells297–317G321SDeafness autosomal dominant 2ADFNA2ACoucke et al., 1999
Kv10.1 EAGKCNH18.5Brain, kidney, lung, and pancreas; in brain: in cortex, hippocampus, caudate, putamen, amígdala, and substantia nigra478–498L489F, I494VTemple-Baraitser syndrome and epilepsyTMBTSSimons et al., 2015
Kv11.1 ERGKCNH210–13Brian: reticular thalamic nucleus, cerebral cortex, cerebellum, and hippocampus; heart639–659F640L/V, S641F, V644F/L, M645I/L, G648S, F656C, G657RLong QT syndrome 2LGT2Napolitano et al., 2005; Tester et al., 2005; Kapplinger et al., 2009
KCa3.1KCNN430–80Nonexcitable tissues265–285V282E/MDehydrated hereditary stomatocytosisDHS2Glogowska et al., 2015
TASK 3KCNK916–32Cerebellum and external plexiform layer of the olfactory bulb; hippocampus219–239G236RBirk-Barel mental retardation dysmorphismBIBASBarel et al., 2008

Non-exhaustive listing of mutations potentially affecting unitary conductance in voltage-gated K+ channel. Mutational data as well as topological composition of S6 transmembrane segments were obtained from UniProt (http://www.uniprot.org/uniprot/).