SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

BMC Medical Genetics

Table 2 10 candidate genes identified in the family case and their related disease

Gene	Related disease	Inheritance	Transcript	Mutation	Allele carriers in ExAC	Allele carriers in 1000 G
SCN8A	Cognitive impairment with or without cerebellar ataxia; EIEE13; Seizures, benign familial infantile, type 5	AD	NM_014191.3	c.4793 T > C, p.Val1598Ala	0	0
ANGPT4	Alzheimer’s disease, vascular dementia	Unknown	NM_015985	c.68A > T, p.Gln23Leu	3	83
IMPA1	Mental retardation, type 59	AR	NM_001144878	c.856A > G, p.Ile286Val	2	–
POP1	Anauxetic dysplasia, type 2	AR	NM_001145860	c.2861G > A, p.Arg954His	1	–
RYR3	Atherosclerosis; HIV Infections	Unknown	NM_001243996	c.12448G > A, p.Asp4150Asn	23	2
SLC16A3	Atherosclerosis; Cardiovascular Diseases; Diabetes Mellitus, type 2	Unknown	NM_004207	c.44C > T, p.Ala15Val	600	57
TDRD7	Cataract, autosomal recessive, type 36	AR	NM_014290	c.474G > A, p.Met158Ile	14	1
PKP2	Arrhythmogenic right ventricular cardiomyopathy, type 9	AD	NM_001005242	c.2200A > G, p.Ile734Val	6	1
LAMA3	Epidermolysis bullosa, generalized atrophic benign; Epidermolysis bullosa, junction, Herlitz type; Laryngoonychocutaneous syndrome	AR	NM_198129	c.7462G > A, p.Asp2488Asn	–	–
C6ORF165	No related diseases reported	_	NM_001031743	c.274A > G, p.Trp92Ala	96	7

AD autosomal dominant, AR autosomal recessive, EIEE 13 Epileptic encephalopathy, early infantile, type 13

ISSN: 1471-2350