Gephyrin and CYP2C9 Genetic Polymorphisms in Patients with Pharmacoresistant Epilepsy

Figures & data

Figure 1 Allelic discrimination plots for rs928553 (A) where blue dots represent wild homozygous genotype (TT), and green dots represent mutant heterozygous genotype (TC) and the red dots represent mutant homozygous genotype (CC), and rs1278237 (B) where blue dots represent wild homozygous genotype (GG), and green dots represent mutant heterozygous genotype (GA); amplification plots for both rs928553 and rs1278237 (C), using real time-PCR.

Table 1 Clinical Characteristics of PRE Patients

Variables (N=100)		No. (%)
Age at onset of epilepsy	Infancy (<1 year)	11%
	Early childhood (1–6 years)	13%
	Late childhood (6–12 years)	20%
	Adolescence (12–18 years)	32%
	Early adulthood (>18 years)	24%
Frequency of fits	Monthly (mild)	2%
	Weekly (moderate)	42%
	Daily (severe)	56%
Status epilepticus	20%
Consanguinity	58%
Family history of epilepsy	40%
Clinical types of epileptic seizures
(A) Generalized
● Generalized onset motor tonic-clonic	44%
● Generalized motor onset atonic	2%
● Generalized onset motor and myoclonus	4%
(B) Focal
Focal impaired awareness motor onset tonic	11%
● Focal onset impaired awareness non-motor	3%
● Focal impaired awareness motor onset tonic-clonic	7%
● Focal to bilateral onset motor tonic-clonic	20%
●Focal onset impaired awareness non-motor	2%
C)Syndromic
● Syndromic-generalized motor onset tonic-clonic	4%
● Syndromic-focal onset impaired awareness	3%

Note: Data were expressed in form of frequency (percentage).

Table 2 Genotypes and Alleles Frequencies of GPHN T>C in the Study Groups

Study Groups	Variables
	GPHN T>C Genotypes Among the Studied Groups														GPHN T>C Alleles
	TT		TC		CC		TT+TC		CC		TT		TC+CC		T		C
	N	%	N	%	N	%	N	%	N	%	N	%	N	%	N	%	N	%
Group A (N=100)	26	30.2	44	62.9	30	68.2	70	44.9%	30	68.2	26	30.2%	74	64.9%	96	48	104	52
Group B (N=100)	60	69.8	26	37.1	14	31.8	86	55.1%	14	31.8%	60	69.8%	40	35.1%	146	73	54	27
P-value (χ^2)	<0.001* (23.88)						0.006* (7.45)				<0.001* (23.58)				<0.001* (26.15)
OR (95%CI)							0.38 (0.18–0.77)				0.23 (0.13–0.43)				0.34 (0.22–0.51)

Notes: *Significant P value (P˂0.05). Group A (patients with pharmacoresistant epilepsy); group B (unrelated healthy controls).

Abbreviations: OR, odds ratio; CI, confidence intervals; χ^2, chi-squared.

Table 3 Genotypes and Alleles Frequencies of CYP2C9 G>A in the Study Groups

Study Groups	Variables
	CYP2C9 G>A Genotypes Among the Studied Groups														CYP2C9 G>A Alleles
	GG		GA		AA		GG+GA		AA		GG		GA+AA		G		A
	N	%	N	%	N	%	N	%	N	%	N	%	N	%	N	%	N	%
Group A (cases) (N=100)	10	16.7	52	56.5	38	79.2	62	40.8	38	79.2	10	16.7	90	64.3	72	36	128	64
Group B (N=100)	50	83.3	40	43.5	10	20.8	90	59.2	10	20.8	50	83.3	50	35.7	140	70	60	30
P-value (χ^2)	<0.001* (44.56)						<0.001* (21.49)				<0.001* (38.09)				<0.001* (46.41)
OR (95%CI)							0.18 (0.084–0.39)				0.11 (0.05–0.23)				0.24 (0.15–0.366)

Notes: *Significant P value (P˂0.05). Group A (patients with pharmacoresistant epilepsy); group B (unrelated healthy controls).

Abbreviations: OR, odds ratio; CI, confidence intervals; χ², chi-squared.