Eag1 K⁺ Channel: Endogenous Regulation and Functions in Nervous System

Table 1

Demographic, genetic, and clinical data in all reported subjects with KCNH1 mutations.

	Mutations	Reference	TBS	ZLS	Atypical
	615G>C; Lys217Asn	Patient D; Simons et al., 2015	+	−	−
	974C>A; Ser325Tyr (Ser352Tyr); 1066G>C; Val356Leu (Val383Leu)	Patient 2; Kortüm et al., 2015	−	+	−
	1070G>A; Arg357Gln	Patient 1; Bramswig et al., 2015	−	−	+
		Patient 2; Bramswig et al., 2015	−	−	+
		Patient 3; Bramswig et al., 2015	−	−	+
		Patient 1; Fukai et al., 2016	−	−	+
		Patient 2; Fukai et al., 2016	−	−	+
	1070G>C; Arg357Pro	Patient 3; Fukai et al., 2016	−	−	+
	1042G>A; Gly348Arg (Gly375Arg)	Patient 3; Kortüm et al., 2015	−	+	−
		Patient; Mégarbané et al., 2016	+	−	−
		Patient; Mastrangelo et al., 2016	−	+	−
	1054C>G; Leu352Val (Leu379Val)	Patient 5; Kortüm et al., 2015	−	+	−
	1465C>T; Leu489Phe	Patient B; Simons et al., 2015	+	−	−
		Patient 4; Bramswig et al., 2015	−	−	+
	1480A>G; Ile494Val	Patient C; Simons et al., 2015	+	−	−
		Patient E; Simons et al., 2015	+	−	−
		Patient F; Simons et al., 2015	+	−	−
		Patient 1; Kortüm et al., 2015	−	+	−
		Patient 6; Kortüm et al., 2015	−	+	−
	1405G>A; Gly469Arg (Gly496Arg)	Patient 4; Kortüm et al., 2015	−	+	−
	1487G>A; Gly496Glu	Patient 4; Fukai et al., 2016	−	−	+
	1508A>G; Gln503Arg	Patient A; Simons et al., 2015	+	−	−
Total	12/22	22	7	7	8

+: present; −: absent; TBS: Temple-Baraitser syndrome; ZLS: Zimmermann-Laband syndrome; atypical: undefined neurodevelopmental disorder. The mutations in brackets represent the translated mutations that are originally found in short KCNH1 isoform (NM_002238.3) and in long isoform (NM_172362.2) for the easier comparison.