Table 2.

Hyperekplexia mutations in GLRB

Mutation	Mutation type	Inheritance	GlyR position	Notes	Reference
ΔEx1-8	deletion	recessive	n.a.		[11]
Splice site mutation In4 (c.298-1G > A)	missense	recessive	n.a.	compound heterozygous with S321F	[13]
ΔEx5	deletion	recessive	n.a.	compound heterozygous with G229D	[15]
ΔEx5 and S176RfsX6	deletion	recessive	n.a.		[11]
E24X	nonsense	recessive	ECD		[11]
R50X	nonsense	recessive	ECD	compound heterozygous with Q216fsX222	[14]
P169L	missense	recessive	ECD		[11]
M177R	missense	recessive	ECD		[10]
R190X	nonsense	recessive	ECD	compound heterozygous with △S262	[11]
F19IfsX3	deletion	recessive	ECD		[11]
Q216fsX222	deletion	recessive	ECD	compound heterozygous with E24X	[14]
G229D	missense	recessive	ECD	compound heterozygous with ΔEx5	[15]
△S262	deletion	recessive	TM1	compound heterozygous with R190X	[11]
L285R	missense	de novo	TM2		[12]
W310C	missense	recessive	TM2-TM3 loop		[12]
S321F	missense	recessive	TM3	compound heterozygous with In4 (c.298-1G > A)	[13]
R450X	nonsense	recessive	TM3-TM4 loop		[11]
Y470C	missense	dominant	TM4		[11]

ECD extracellular binding domain, TM transmembrane.