The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.
We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed a systematic search for mutations in 46 familial IGE cases and detected three novel polymorphisms, however, allele frequencies did not differ significantly between patients and controls. A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCN2A in the etiology of IGE.
Haug
K
K
University Department of Human Genetics, Wilhelmstr. 31, 53111 Bonn, Germany.
Hallmann
K
K
Rebstock
J
J
Dullinger
J
J
Muth
S
S
Haverkamp
F
F
Pfeiffer
H
H
Rau
B
B
Elger
C E
CE
Propping
P
P
Heils
A
A
D000483:Alleles; D019943:Amino Acid Substitution; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012016:Reference Values; D015222:Sodium Channels / Q000235:genetics*
D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; D015222:Sodium Channels