The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy.
Recent identification of ion channel gene mutations in Mendelian epilepsies suggests that genetically driven neuronal hyperexcitability plays an important role in epileptogenesis. In this study, we tested the hypothesis that genetic variation in the human SCN2B gene confers liability to common subtypes of idiopathic generalized epilepsies (IGE). A systematic search for mutations was performed in 92 IGE patients. We detected a novel single nucleotide polymorphism (SNP), however, allele frequencies did not differ between IGE patients and controls (chi2 = 0.19, df = 1, p = 0.744). Furthermore, a missense mutation in codon 209 (Asn209Pro) was identified in one patient, but was found to be absent in an affected sibling of the index patient. Thus, our results do not suggest a major role of the SCN2B gene in the etiology of common IGE subtypes.
Haug
K
K
University Department of Human Genetics, Bonn, Germany.
Sander
T
T
Hallmann
K
K
Rau
B
B
Dullinger
J S
JS
Elger
C E
CE
Propping
P
P
Heils
A
A
D000328:Adult; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012016:Reference Values; D015222:Sodium Channels / Q000235:genetics*; D062548:Voltage-Gated Sodium Channel beta-2 Subunit
D009419:Nerve Tissue Proteins; C117620:SCN2B protein, human; D015222:Sodium Channels; D062548:Voltage-Gated Sodium Channel beta-2 Subunit