Table 4.

The discovered missense mutations into the coding sequence of CLDN5 gene

Mutant	Number	Note	Ref
G60R (c.178G > A)	4	All of them developed hemiplegia and 2 of them are diagnosed with AHC.	[159, 160]
G60R (c.178G > C)	1	Not developed hemiplegia so far.	[160]
V41M (c.121G > A)	3	Its barrier forming ability was normal in epithelial cells overexpressing this mutant.	[160] [151]
Q63K (c.187 C > A)	1	The most severe phenotype was observed.	[160]
N39S (c.116 A > G)	2	It is located in the interface of trans-interaction	[160]
F35L (c.105 C > G)	1	It is located in the interface of trans-interaction	[160]
I40V (c.118 A > G)	1	It is located in the interface of trans-interaction	[160]
A43P (c.127G > C)	1	It is located in the interface of trans-interaction	[160]
V55A (c.164T > C)	1	It is located in the gate region	[160]
S58R (c.174 C > G)	1	It is located in the gate region	[160]

All patients develop epilepsy, calcium deposition in the basal ganglia and microcephaly