ArticleHuman molecular genetics2014
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 5 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Genome-wide association meta-analyses of drug-resistant epilepsy.EBioMedicine · 2025Pooled it
- Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohorts.Brain : a journal of neurology · 2025Pooled it
- Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis.BMC neurology · 2017Pooled it
- Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.The Lancet. Neurology · 2014Pooled it
- Association of MDR1 gene C3435T polymorphism with childhood intractable epilepsy: a meta-analysis.Journal of neural transmission (Vienna, Austria : 1996) · 2014Pooled it
- Dosage effect of copy number variation in epilepsy and ten regions of the human brain.Scientific reports · 2025Article
- Leveraging the enrichment analysis from a genome-wide association study against epilepsy-focusing on the role of tryptophan catabolites pathway in patients with drug-resistant epilepsy.Frontiers in nutrition · 2025Article
- Developmental mechanisms underlying pediatric epilepsy.Frontiers in neurology · 2025Review
- DNA Methylation Signature of Epileptic Encephalopathy-Related Pathogenic Genes Encoding Ion Channels in Temporal Lobe Epilepsy.Frontiers in neurology · 2021Article
- Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2.Alcoholism, clinical and experimental research · 2018Article
- Global characterization of copy number variants in epilepsy patients from whole genome sequencing.PLoS genetics · 2018Article
- Convergent and divergent genetic changes in the genome of Chinese and European pigs.Scientific reports · 2017Article
- Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly.Pediatric research · 2017Article
- The Genetic Architecture of Murine Glutathione Transferases.PloS one · 2016Article
- Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.Current neurology and neuroscience reports · 2015Review
- Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus.Nature communications · 2015Article
- Novel susceptibility loci were found in Chinese genetic generalized epileptic patients by genome-wide association study.CNS neuroscience & therapeutics · 2014Article
- Describing the genetic architecture of epilepsy through heritability analysis.Brain : a journal of neurology · 2014Article
- A comprehensive functional and clinical analysis of ABCC2 and its impact on treatment response to carbamazepine.The pharmacogenomics journal · 2014Article
- The hidden genetics of epilepsy-a clinically important new paradigm.Nature reviews. Neurology · 2014Review
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Authors and funding
32 authors.
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Abstract
We present the analysis of a prospective multicentre study to investigate genetic effects on the prognosis of newly treated epilepsy. Patients with a new clinical diagnosis of epilepsy requiring medication were recruited and followed up prospectively. The clinical outcome was defined as freedom from seizures for a minimum of 12 months in accordance with the consensus statement from the International League Against Epilepsy (ILAE). Genetic effects on remission of seizures after starting treatment were analysed with and without adjustment for significant clinical prognostic factors, and the results from each cohort were combined using a fixed-effects meta-analysis. After quality control (QC), we analysed 889 newly treated epilepsy patients using 472 450 genotyped and 6.9 × 10(6) imputed single-nucleotide polymorphisms. Suggestive evidence for association (defined as Pmeta < 5.0 × 10(-7)) with remission of seizures after starting treatment was observed at three loci: 6p12.2 (rs492146, Pmeta = 2.1 × 10(-7), OR[G] = 0.57), 9p23 (rs72700966, Pmeta = 3.1 × 10(-7), OR[C] = 2.70) and 15q13.2 (rs143536437, Pmeta = 3.2 × 10(-7), OR[C] = 1.92). Genes of biological interest at these loci include PTPRD and ARHGAP11B (encoding functions implicated in neuronal development) and GSTA4 (a phase II biotransformation enzyme). Pathway analysis using two independent methods implicated a number of pathways in the prognosis of epilepsy, including KEGG categories 'calcium signaling pathway' and 'phosphatidylinositol signaling pathway'. Through a series of power curves, we conclude that it is unlikely any single common variant explains >4.4% of the variation in the outcome of newly treated epilepsy.
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