title: Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study.
abstract: Serotonin levels might alter susceptibility to seizures. Serotonin transporter (5HTT) gene polymorphisms were found to be associated with some forms of epilepsy. Here, we attempted to examine an association between 5HTT VNTR allele variants in a serotonin transporter gene and epileptogenesis in juvenile myoclonic epilepsy (JME) cases. We conducted a case-control candidate gene study evaluating the frequencies of 5HTT VNTR allele variants using SYBR green real-time PCR with melting curve analysis in JME patients and healthy subjects. Forty patients with JME were selected from the Epilepsy Outpatient Clinic of Kasr Al Ainy Hospital, Cairo University, who had been classified according to the electroclinical classification of the ILAE. The control group consisted of 40 healthy Egyptian subjects. The less efficient transcriptional genotypes for 5-HTT polymorphisms were more frequent in JME patients (OR 9.33, CI 2.85-30.60; p value < 0.001). In our study we detected an association between the presence of 5-HTTVNTR with less transcriptional efficient genotypes and JME, which suggests that modulation of the serotoninergic system might be indicated in epileptogenesis in JME.
authors.affiliation: Neurology Department, Faculty of Medicine, Cairo University, Cairo, Egypt, emaan_neuro@yahoo.com.
authors.forename: Eman H
authors.initials: EH
authors.lastname: Esmail
authors.forename: Dalia M
authors.initials: DM
authors.lastname: Labib
authors.forename: Walaa A
authors.initials: WA
authors.lastname: Rabie
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins