The voltage-gated sodium channel beta 2-subunit gene and idiopathic generalized epilepsy

Recent identification of ion channel gene mutations in Mendelian epilepsies suggests that genetically driven neuronal hyperexcitability plays an impor tant role in epileptogenesis. In this study, we tested the hypothesis that genetic variation in the human SCN2B gene confers liability to common subty pes of idiopathic generalized epilepsies (IGE). A systematic search for mut ations was performed in 92 IGE patients. We detected a novel single nucleot ide polymorphism (SNP), however, allele frequencies did not differ between IGE patients and controls (chi(2) = 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. Th us, our results do not suggest a major role of the SCN2B gene in the etiolo gy of common IGE subtypes. (C) 2000 Lippincott Williams & Wilkins.