Table 1.

Mutations in K_Ca channels that are associated in human diseases, their location in the channel protein, functional implications and related references.

Gene/protein	Disease phenotype	Mutation/location in the protein	Functional effects	Reference
∗KCNN3/SK3	Idiopathic non-cirrhotic portal hypertension	V450L/intracellular loop between the S4 and S5 transmembrane segments	De novo mutation	Koot et al., 2016
			Functional effects currently unknown.
KCNN3/SK3	Schizophrenia	hSK3Δ (L283fs287X mutation)/N-terminal cytoplasmic region (deletion)	Suppresses SK currents Disrupts SK-NMDAR coupling	Miller et al., 2001; Soden et al., 2013
∗KCNMB1/BKβ1	Diastolic hypertension	E65K/Extracellular loop connecting β1 two transmembrane segments.	Gain-of-function mutation rendering enhanced Ca2+ sensitivity	Fernandez-Fernandez et al., 2004
KCNMA1/BKα	Generalized epilepsy and paroxysmal dyskinesia	D434G/RCK1 domain	Gain-of-function mutation leading to enhanced Ca2+ sensitivity	Du et al., 2005; Yang J. et al., 2010
KCNMA1/BKα	Epilepsy	N995S/RCK2 domain	De novo mutation Shifts the voltage dependence to more negative potentials without altering Ca2+ sensitivity	Li et al., 2018
KCNMB3/BKβ3	Idiopathic generalized epilepsy	Del A750/C-terminal region (truncation of 21 amino acids)	BK inactivation	Hu et al., 2003; Lorenz et al., 2007

This table includes other mutations not linked to neurological diseases that are not discussed in detail in the main text (indicated with asterisks).