ArticleClinical trials (London, England)2013
The epilepsy phenome/genome project.
Article in Clinical trials (London, England), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
31 citing papers in PubMed, 53 citations in OpenAlex.
- Data Interoperability and Harmonization in Cardiovascular Genomic and Precision Medicine.Circulation. Genomic and precision medicine · 2025Review
- A familial case of diffuse periventricular nodular heterotopia identified prenatally: Filamin A defect as the probable cause.Radiology case reports · 2024Article
- Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.Nature neuroscience · 2024Article
- Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.medRxiv : the preprint server for health sciences · 2024Article
- Article
- The role of copy number variants in the genetic architecture of common familial epilepsies.Epilepsia · 2024Article
- Phenomic Studies on Diseases: Potential and Challenges.Phenomics (Cham, Switzerland) · 2023Review
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.American journal of human genetics · 2021Article
- Diverse genetic causes of polymicrogyria with epilepsy.Epilepsia · 2021Article
- Article
- Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.Molecular genetics & genomic medicine · 2020Article
- A taxonomy of seizure dynamotypes.eLife · 2020Article
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.American journal of human genetics · 2019Article
- Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.Pediatric neurology · 2018Observational
- Article
- Phenotypic analysis of 303 multiplex families with common epilepsies.Brain : a journal of neurology · 2017Article
- A Model Program for Translational Medicine in Epilepsy Genetics.Journal of child neurology · 2017Article
- Genetic effects on sleep/wake variation of seizures.Epilepsia · 2016Article
- Surpassing the Target: How a Recruitment Campaign Transformed the Participant Accrual Trajectory in the Epilepsy Phenome/Genome Project.Clinical and translational science · 2015Article
- Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.Epilepsy & behavior : E&B · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
63 authors at 1 institution in 1 country.
Funding
Abstract
backgroundEpilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype-genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy.
resultsEPGP is being executed in four phases: study initiation, pilot, study expansion/establishment, and close-out. This article discusses a number of key challenges and solutions encountered during the first three phases of the project, including those related to (1) study initiation and management, (2) recruitment and phenotyping, and (3) data validation. The study has now enrolled 4223 participants.
conclusionsEPGP has demonstrated the value of organizing a large network into cores with specific roles, managed by a strong Administrative Core that utilizes frequent communication and a collaborative model with tools such as study timelines and performance-payment models. The study also highlights the critical importance of an effective informatics system, highly structured recruitment methods, and expert data review.
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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.