Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population

作者：Gkampeta Anastasia^*; Fidani Liana; Clarimon Jordi; Katinderi Kallirhoe; Katopod Teodora; Zafeiriou Dimitrios; Pavlou Evangelos

来源：Epilepsy Research, 2014, 108(10): 1734-1739.

DOI：10.1016/j.eplepsyres.2014.09.005

• BECTS
• BDNF gene
• ELP4 gene
• Val66Met polymorphism
• rs964112 polymorphism
• rs11031434 polymorphism

Purpose: Benign epilepsy with centrotemporal spikes (BECTS) is considered to be the most common childhood epileptic syndrome. Different mutations in genes that control the excitability of neurons have been described. Recent reports on the involvement of the BDNF and ELP4 genes in cell motility, migration, and adhesion raise the possibility that these genes are involved in pathogenesis of BECTS. %26lt;br%26gt;Materials and methods: We conducted a case control association study on 60 patients with BECTS and 60 control participants to assess the influence of the BDNF and ELP4 polymorphisms on BECTS. The polymorphisms were detected with a PCR-RFLP method. Moreover, we explored the possible association of these polymorphisms with clinical and electroencephalographic parameters of patients with BECTS. %26lt;br%26gt;Results: Our results show no difference in BDNF and ELP4 genotype frequencies between patients and controls. Haplotype analysis also revealed no statistical difference. %26lt;br%26gt;Conclusion: The role of BDNF and ELP4 polymorphisms remains controversial.

• 出版日期2014-12