title: Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic-clonic seizure.
abstract: Voltage-gated sodium channel genes are associated with idiopathic generalized epilepsy. Our group preciously identified a suggestive new locus on chromosome 11q22.1-23.3 in a five-generational Chinese epileptic family with generalized tonic-clonic seizure. SCN2B, SCN3B and SCN4B, which located at 11q22.1-23.3 locus, were chosen as candidate genes for this family. In the present study, genomic DNA was extracted in six affected family members. All exons of SCN2B, SCN3B and SCN4B were sequenced using direct DNA sequence analysis. The results showed that no mutation or polymorphism of coding regions of SCN2B, SCN3B and SCN4B was detected in the tested family members. Therefore, SCN2B, SCN3B and SCN4B are not major susceptibility genes contributed to our large family.
authors: Department of Geriatrics, The First Affiliated Hospital, Chongqing Medical University, Chongqing, 400016, China.
authors: Yang
authors: Y
authors: Lu
authors: Weihua
authors: W
authors: Yu
authors: Zhiqin
authors: Z
authors: Xi
authors: Zheng
authors: Z
authors: Xiao
authors: Xiaoqin
authors: X
authors: Kou
authors: Xue-Feng
authors: XF
authors: Wang
mesh_terms: D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D012640:Seizures / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D062548:Voltage-Gated Sodium Channel beta-2 Subunit; D062549:Voltage-Gated Sodium Channel beta-3 Subunit; D062585:Voltage-Gated Sodium Channel beta-4 Subunit
chemical_list: D009419:Nerve Tissue Proteins; C117620:SCN2B protein, human; C493324:SCN3B protein, human; C477263:SCN4B protein, human; D015222:Sodium Channels; D062548:Voltage-Gated Sodium Channel beta-2 Subunit; D062549:Voltage-Gated Sodium Channel beta-3 Subunit; D062585:Voltage-Gated Sodium Channel beta-4 Subunit