BACKGROUND AND PURPOSE: Epilepsy is a common chronic neurological disorder. About one third of epilepsy patients will suffer from drug resistance after rational selection of antiepileptic drug treatment. The formation of drug-resistant epilepsy has quite a few causes of which genetic factors are considered to be the most important. Previous studies have suggested that the aquaporin 4(AQP4) and inward rectifier potassium ion channel Kir4.1 (encoded by gene KCNJ10) may act in concert to adjust water homeostasis and concentration of potassium ions in extracellular spaces of the central nervous system. Therefore, these two molecules would play a major role in the regulation of the excitability of neurons. In order to explore the potential mechanism of genetic factors related to AQP4 and Kir4.1, we conducted a study to analyze the effects of the AQP4 and KCNJ10 genes' single nucleotide polymorphisms (SNPs) on epileptic drug resistance and seizure susceptibility in a group of Chinese Han patients with focal epilepsy. MATERIALS AND METHODS: In total, 510 patients with focal-onset seizures and 206 healthy controls were recruited. Among the patients, 222 were drug resistant and 288 were responsive. The selection of tag SNPs was based on the Hapmap database and Haploview software. Genotyping of three loci of the AQP4 gene (rs1058424, rs3763043 and rs35931) and nine loci of the KCNJ10 gene (rs12122979, rs1186685, rs6690889, rs2486253, rs1186675, rs12402969, rs12729701, rs1890532 and rs3795339) was conducted on the Sequenom MassARRAY iPLEX platform. RESULTS: The distribution of genotype and allele frequencies of selected SNP loci of AQP4 and KCNJ10 genes showed no significant difference between the drug-resistant and drug-responsive groups (p>0.05), and no significant difference between all the idiopathic focal epilepsy patients and healthy controls either. CONCLUSION: AQP4 and KCNJ10 genetic polymorphisms may not be associated with drug resistance or seizure susceptibility of focal epilepsy in the Chinese Han population.
BACKGROUND AND PURPOSE: Epilepsy is a common chronic neurological disorder. About one third of epilepsy patients will suffer from drug resistance after rational selection of antiepileptic drug treatment. The formation of drug-resistant epilepsy has quite a few causes of which genetic factors are considered to be the most important. Previous studies have suggested that the aquaporin 4(AQP4) and inward rectifier potassium ion channel Kir4.1 (encoded by gene KCNJ10) may act in concert to adjust water homeostasis and concentration of potassium ions in extracellular spaces of the central nervous system. Therefore, these two molecules would play a major role in the regulation of the excitability of neurons. In order to explore the potential mechanism of genetic factors related to AQP4 and Kir4.1, we conducted a study to analyze the effects of the AQP4 and KCNJ10 genes' single nucleotide polymorphisms (SNPs) on epileptic drug resistance and seizure susceptibility in a group of Chinese Han patients with focal epilepsy. MATERIALS AND METHODS: In total, 510 patients with focal-onset seizures and 206 healthy controls were recruited. Among the patients, 222 were drug resistant and 288 were responsive. The selection of tag SNPs was based on the Hapmap database and Haploview software. Genotyping of three loci of the AQP4 gene (rs1058424, rs3763043 and rs35931) and nine loci of the KCNJ10 gene (rs12122979, rs1186685, rs6690889, rs2486253, rs1186675, rs12402969, rs12729701, rs1890532 and rs3795339) was conducted on the Sequenom MassARRAY iPLEX platform. RESULTS: The distribution of genotype and allele frequencies of selected SNP loci of AQP4 and KCNJ10 genes showed no significant difference between the drug-resistant and drug-responsive groups (p>0.05), and no significant difference between all the idiopathic focal epilepsy patients and healthy controls either. CONCLUSION: AQP4 and KCNJ10 genetic polymorphisms may not be associated with drug resistance or seizure susceptibility of focal epilepsy in the Chinese Han population.
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Authors: A Pecorelli; F Natrella; G Belmonte; C Miracco; F Cervellati; L Ciccoli; A Mariottini; R Rocchi; G Vatti; A Bua; R Canitano; J Hayek; H J Forman; G Valacchi Journal: Biochim Biophys Acta Date: 2014-11-22
Authors: Patrick Kwan; Alexis Arzimanoglou; Anne T Berg; Martin J Brodie; W Allen Hauser; Gary Mathern; Solomon L Moshé; Emilio Perucca; Samuel Wiebe; Jacqueline French Journal: Epilepsia Date: 2009-11-03 Impact factor: 5.864
Authors: Kjell Heuser; Erlend A Nagelhus; Erik Taubøll; Ulf Indahl; Paul R Berg; Sigbjørn Lien; Sigve Nakken; Leif Gjerstad; Ole Petter Ottersen Journal: Epilepsy Res Date: 2009-10-28 Impact factor: 3.045
Authors: Anna D Manis; Oleg Palygin; Elena Isaeva; Vladislav Levchenko; Peter S LaViolette; Tengis S Pavlov; Matthew R Hodges; Alexander Staruschenko Journal: JCI Insight Date: 2021-01-11
Authors: Rhanye Mac Guad; Andrew W Taylor-Robinson; Yuan Seng Wu; Siew Hua Gan; Nur Lisa Zaharan; Roma Choudhury Basu; Constance Sat Lin Liew; Wan Ahmad Hafiz Wan Md Adnan Journal: BMC Nephrol Date: 2020-09-07 Impact factor: 2.388