ArticleBrain : a journal of neurology2014
Describing the genetic architecture of epilepsy through heritability analysis.
Article in Brain : a journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 4 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 4 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Genome-wide association meta-analyses of drug-resistant epilepsy.EBioMedicine · 2025Pooled it
- GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.Nature genetics · 2023Pooled it
- Potential Pleiotropic Genes and Shared Biological Pathways in Epilepsy and Depression Based on GWAS Summary Statistics.Computational intelligence and neuroscience · 2022Pooled it
- Genetic regulation of gene expression in the epileptic human hippocampus.Human molecular genetics · 2017Pooled it
- Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.Epilepsia open · 2024Article
- Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.American journal of medical genetics. Part A · 2024Article
- A nutraceutical product, extracted from Cannabis sativa, modulates voltage-gated sodium channel function.Journal of cannabis research · 2022Article
- The Neuropsychiatric Approach to the Assessment of Patients in Neurology.Seminars in neurology · 2022Article
- Genetic generalized epilepsies in adults - challenging assumptions and dogmas.Nature reviews. Neurology · 2022Review
- Paradoxical hyperexcitability from NaCell reports · 2021Article
- Improved genetic prediction of complex traits from individual-level data or summary statistics.Nature communications · 2021Article
- Using common genetic variants to find drugs for common epilepsies.Brain communications · 2021Article
- Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy.Frontiers in neuroscience · 2021Article
- Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors.Epilepsia · 2020Article
- Impact of predictive, preventive and precision medicine strategies in epilepsy.Nature reviews. Neurology · 2020Review
- Rare genetic causes of complex kidney and urological diseases.Nature reviews. Nephrology · 2020Review
- Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.International journal of molecular sciences · 2020Review
- Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.EBioMedicine · 2020Article
- Evaluating and improving heritability models using summary statistics.Nature genetics · 2020Article
- Genetic Variation and Response to Neurocritical Illness: a Powerful Approach to Identify Novel Pathophysiological Mechanisms and Therapeutic Targets.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 4 countries.
Funding
Abstract
Epilepsy is a disease with substantial missing heritability; despite its high genetic component, genetic association studies have had limited success detecting common variants which influence susceptibility. In this paper, we reassess the role of common variants on epilepsy using extensions of heritability analysis. Our data set consists of 1258 UK patients with epilepsy, of which 958 have focal epilepsy, and 5129 population control subjects, with genotypes recorded for over 4 million common single nucleotide polymorphisms. Firstly, we show that on the liability scale, common variants collectively explain at least 26% (standard deviation 5%) of phenotypic variation for all epilepsy and 27% (standard deviation 5%) for focal epilepsy. Secondly we provide a new method for estimating the number of causal variants for complex traits; when applied to epilepsy, our most optimistic estimate suggests that at least 400 variants influence disease susceptibility, with potentially many thousands. Thirdly, we use bivariate analysis to assess how similar the genetic architecture of focal epilepsy is to that of non-focal epilepsy; we demonstrate both significant differences (P = 0.004) and significant similarities (P = 0.01) between the two subtypes, indicating that although the clinical definition of focal epilepsy does identify a genetically distinct epilepsy subtype, there is also scope to improve the classification of epilepsy by incorporating genotypic information. Lastly, we investigate the potential value in using genetic data to diagnose epilepsy following a single epileptic seizure; we find that a prediction model explaining 10% of phenotypic variation could have clinical utility for deciding which single-seizure individuals are likely to benefit from immediate anti-epileptic drug therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.