Table 2.

Impact of genetic variations associated with autism spectrum disorder (ASD) on ion channel's function

Ion channels	Genes	Variations	Type of variation	Impact on ion channel	References
Ca2+ channels	CACNA1C	p.I1166T	Missense	Shifts peak channel activation and reduces current density	Boczek et al. (2015)
	CACNA1D	p.A749G; p.G407R	Missense	Changes kinetics of activation and inactivation	Pinggera et al. (2015)
	CACNA1F	p.I745T	Missense	Shifts channel inactivation ~30 mV and significantly slows the inactivation kinetics	Hemara‐Wahanui et al. (2005)
	CACNA1H	p.R212C; p.R902W, p.R1871Q/p.A1874V; p.W962C	Missense	All these mutations reduce current density and voltage‐dependent gating properties	Splawski et al. (2006)
	CACNB2	p.G167S; p.S197F;p.F240L	Missense	G167S and S197F increase the sensitivity of voltage‐dependent inactivation, and F240L shows an accelerated time‐dependent inactivation	Breitenkamp et al. (2014)
K+ channels	KCNMA1	9q23/10q22	Translocation	Reduces the activity of the BKCa channel	Laumonnier et al. (2006)
	KCNB1	p.I199F	Missense	Induces partial loss of function relative to biophysical defects of assembled homotetrameric and heterotetrameric channels	Calhoun et al. (2017)
	KCNQ3	p.P574S	Missense	Reduces potassium current amplitude	Gilling et al. (2013)
Na+ channels	SCN2A	c.476+1G>A	Splicing	Produces a nonsense mRNA and a truncated protein which alters the channel properties	Tavassoli et al. (2014)