ReviewNature reviews. Neurology2014
The hidden genetics of epilepsy-a clinically important new paradigm.
Review in Nature reviews. Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 119 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
119 citing papers in PubMed, 2 syntheses or guidelines pooled it, 288 citations in OpenAlex.
- Pooled it
- Pooled it
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- A decade later: a longitudinal retrospective cohort study of the clinical course of childhood-onset epilepsy in a multi-ethnic tertiary centre.Acta epileptologica · 2026Article
- Genetic medicines for epilepsy: unlocking new avenues for seizure control.Frontiers in bioengineering and biotechnology · 2026Review
- A comparative cohort study of epilepsy in children in Greenland and Denmark.International journal of circumpolar health · 2025Article
- A Method for Explainable Epileptic Seizure Detection Through Wavelet Transforms Obtained by Electroencephalogram-Based Audio Recordings.Sensors (Basel, Switzerland) · 2025Article
- Visual detection of seizures in mice using supervised machine learning.Cell reports methods · 2025Article
- Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.Molecular biology reports · 2025Article
- Article
- Article
- Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.Epilepsia · 2025Article
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review.Frontiers in genetics · 2025Article
- Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea.Biomedicines · 2024Article
- Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.European journal of human genetics : EJHG · 2024Article
- Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.Epilepsia open · 2024Observational
- Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.iScience · 2024Article
- Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.Clinical genetics · 2024Article
- Visual detection of seizures in mice using supervised machine learning.bioRxiv : the preprint server for biology · 2024Article
59 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Understanding the aetiology of epilepsy is essential both for clinical management of patients and for conducting neurobiological research that will direct future therapies. The aetiology of epilepsy was formerly regarded as unknown in about three-quarters of patients; however, massively parallel gene-sequencing studies, conducted in a framework of international collaboration, have yielded a bounty of discoveries that highlight the importance of gene mutations in the aetiology of epilepsy. These data, coupled with clinical genetic studies, suggest a new paradigm for use in the clinic: many forms of epilepsy are likely to have a genetic basis. Enquiry about a genetic cause of epilepsy is readily overlooked in the clinic for a number of understandable but remediable reasons, not least an incomplete understanding of its genetic architecture. In addition, the importance of de novo mutagenesis is often underappreciated, particularly in the epileptic encephalopathies. Other genomic surprises are worth emphasizing, such as the emerging evidence of a genetic contribution to focal epilepsies-long regarded as acquired conditions-and the complex role of copy number variation. The importance of improved understanding of the genetics of the epilepsies is confirmed by the positive outcomes, in terms of treatment selection and counselling, of receiving a genetic diagnosis.
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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.