ArticleEpilepsia2012
Epi4K: gene discovery in 4,000 genomes.
Article in Epilepsia, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis 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
52 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.The Lancet. Neurology · 2014Pooled it
- Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies.Epilepsia · 2025Article
- Cerebral Palsy Phenotypes in Genetic Epilepsies.Pediatric neurology · 2024Article
- Article
- Virus-Induced Epilepsy vs. Epilepsy Patients Acquiring Viral Infection: Unravelling the Complex Relationship for Precision Treatment.International journal of molecular sciences · 2024Review
- Identification of potential crucial genes and therapeutic targets for epilepsy.European journal of medical research · 2024Article
- Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.Nature communications · 2023Article
- Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.Neurology. Genetics · 2022Article
- Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy.Journal of genetic mutation disorders · 2022Article
- A zebrafish-centric approach to antiepileptic drug development.Disease models & mechanisms · 2021Article
- Diverse genetic causes of polymicrogyria with epilepsy.Epilepsia · 2021Article
- Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.Neurology. Genetics · 2021Article
- What is brain health and why is it important?BMJ (Clinical research ed.) · 2020Article
- Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.American journal of human genetics · 2020Article
- Tiered analysis of whole-exome sequencing for epilepsy diagnosis.Molecular genetics and genomics : MGG · 2020Article
- Autism spectrum disorder.Nature reviews. Disease primers · 2020Review
- Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.Epilepsia · 2019Article
- Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.Genome medicine · 2019Article
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.American journal of human genetics · 2019Article
- The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.Epilepsia · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
A major challenge in epilepsy research is to unravel the complex genetic mechanisms underlying both common and rare forms of epilepsy, as well as the genetic determinants of response to treatment. To accelerate progress in this area, the National Institute of Neurological Disorders and Stroke (NINDS) recently offered funding for the creation of a "Center without Walls" to focus on the genetics of human epilepsy. This article describes Epi4K, the collaborative study supported through this grant mechanism and having the aim of analyzing the genomes of a minimum 4,000 subjects with highly selected and well-characterized epilepsy.
Indexed as
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What OpenQuestion holds
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.