. 2017 Nov 10;34(3):549–565. doi: 10.1007/s12264-017-0191-5

Table 3.

Summary of GRIN2B mutations identified in epilepsy

GRIN2B	Protein	Gene	Zygosity	Origin	Location	Functional validation	Consequences	Phenotype	References
Deletion (2)	Not known	12p13.1 microdeletion		De novo				Epilepsy + ID + DD	[56]
	p.Phe671_Gln672del	c.2011-5 2011-4delTC		Inherited	LBD (S2)			West syndrome	[56]
Inversion (1)	Not known	inversion (12) (p13.1q21.31)		De novo	-			Epilepsy + ID + ASD	[57]
Splice-site (1)	Not known	NM_000834.3:c.2011-1G>A	Het	De novo				EOEE	[58]
Missense (9)	p.Glu47Gly	c.140A>G		Inherited	ATD			TLE	[59]
	P.Glu370Lys	c.1108G>A			ATD			TLE	[59]
	p.Cys436Arg	c.1306T>C		De novo	LBD (S1)	Current↓, Total protein↓, Surface expression↓	LOF	Epilepsy + ID	[42]
	p.Cys461Phe	c.1382G>T		De novo	LBD (S1)	Current↓, Glu↓, Gly↑, τ_w↓, Total protein↓, Surface expression↓	LOF	LGS + ID + ASD	[27, 42]
	p.Arg540His	c.1619G>A	Het	De novo	LBD (S1)	Current→, Glu↑, Gly↑, τ_w↑, Mg²⁺↓, Total protein↓, Surface expression↓,	GOF	Focal epilepsy + ID	[42, 56, 60]
	p.Asn615Ile	c.1844A>T	Het	De novo	M2	Glu→, Mg²⁺↓, Ca²⁺↑	GOF	West Syndrome + severe DD	[56, 60]
	p.Val618Gly	c.1853T>G	Het	De novo	M2	Glu→, Mg²⁺↓, Ca²⁺↑	GOF	West Syndrome + severe DD	[56, 60]
	p.Gln662Pro	c.1985A>C		De novo	LBD (S2)			IS + Myoclonus + severe ID	[61]
	p.Met824Arg	c.2471T>G		De novo	M4			Epilepsy + ID + DD	[62]

ASD autism spectrum disorder