NM_001182.4:c.1364T>C

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
266100.1.1	Tunisia	2	Likely Pathogenic	Epilepsy, Pyridoxine Dependent	Tlili et al. 2013	Deceased affected older brother
266100.1.2	Tunisia	1	Likely Pathogenic		Tlili et al. 2013	Mother of 266100.1.1
266100.1.3	Tunisia	1	Likely Pathogenic		Tlili et al. 2013	Father of 266100.1.1
266100.2.1	Tunisia	2	Likely Pathogenic	Epilepsy, Pyridoxine Dependent	Tlili et al. 2013	Two deceased affected younger brothers
266100.2.2	Tunisia	1	Likely Pathogenic		Tlili et al. 2013	Mother of 266100.2.1
266100.2.3	Tunisia	1	Likely Pathogenic		Tlili et al. 2013	Father of 266100.2.1
266100.5	Tunisia	2	Likely Pathogenic	Epilepsy, Pyridoxine Dependent	Tlili et al. 2013
266100.6	Tunisia	2	Likely Pathogenic	Epilepsy, Pyridoxine Dependent	Tlili et al. 2013
266100.7	Tunisia	2	Likely Pathogenic	Epilepsy, Pyridoxine Dependent	Tlili et al. 2013
266100.8	Tunisia	2	Likely Pathogenic	Epilepsy, Pyridoxine Dependent	Tlili et al. 2013
266100.9	Tunisia	2	Likely Pathogenic	Epilepsy, Pyridoxine Dependent	Tlili et al. 2013