title: The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.
abstract: 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.
authors.affiliation: University Department of Human Genetics, Wilhelmstr. 31, 53111 Bonn, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Haug
authors.forename: K
authors.initials: K
authors.lastname: Hallmann
authors.forename: J
authors.initials: J
authors.lastname: Rebstock
authors.forename: J
authors.initials: J
authors.lastname: Dullinger
authors.forename: S
authors.initials: S
authors.lastname: Muth
authors.forename: F
authors.initials: F
authors.lastname: Haverkamp
authors.forename: H
authors.initials: H
authors.lastname: Pfeiffer
authors.forename: B
authors.initials: B
authors.lastname: Rau
authors.forename: C E
authors.initials: CE
authors.lastname: Elger
authors.forename: P
authors.initials: P
authors.lastname: Propping
authors.forename: A
authors.initials: A
authors.lastname: Heils
mesh_terms: 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*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; D015222:Sodium Channels