Condition: Epilepsy


rs1558005340 in ATP1A2 gene and Epilepsy PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs11214136 in BCO2 gene and Epilepsy PMID 30868120 2019 A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

rs13287547 in C9orf92 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs2292096 in CAMSAP2 gene and Epilepsy PMID 22116939 2012 Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.

rs12059546 in CHRM3 gene and Epilepsy PMID 22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

rs72823592 in COPZ2 gene and Epilepsy PMID 22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

rs1429264 in COTL1 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs79007183 in CRAMP1 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs62270313 in EPHB1 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs1178326 in HDAC9 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs10030601 in IQCM gene and Epilepsy PMID 22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

rs9596863 in LINC00558 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs631844 in LINC02109;LOC107986410 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs75078187 in LOC100506422 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs13026414 in LOC101927235;LOC105377632 gene and Epilepsy PMID 22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

rs74308953 in LOC102724929 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs970510 in LOC102725148 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs139427007 in LOC105369927;LOC105369928 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs55949311 in LOC105370210 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs4671319 in LOC105374697 gene and Epilepsy PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

rs12668095 in LOC105375268 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs9833158 in LOC105377641 gene and Epilepsy PMID 30868120 2019 A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

rs771390 in LOC105378639 gene and Epilepsy PMID 22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

rs148173957 in LOC105378976 gene and Epilepsy PMID 30868120 2019 A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

rs7495694 in LOC107984801 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs150435906 in LOC107986950 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs39861 in MAST4 gene and Epilepsy PMID 22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

rs1057516064 in ND3;COX3;ATP6;ND4L;ND4 gene and Epilepsy PMID 28027978 2017 In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.

rs1394074 in OLFML3 gene and Epilepsy PMID 30868120 2019 A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

rs796051881 in PEX5 gene and Epilepsy PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs72700966 in PTPRD gene and Epilepsy PMID 23962720 2014 A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.

rs6432877 in SCN1A;SCN1A-AS1 gene and Epilepsy PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

PMID 25087078 2014 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.

rs796053124 in SCN2A gene and Epilepsy PMID 20956790 2010 SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

rs141860749 in SYT2 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.