Evidence map›Paper›PMID 20100225›Full record

ArticleEpilepsia2010

Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

Ruth Ottman, Shinichi Hirose, Satish Jain, Holger Lerche, Iscia Lopes-Cendes, Jeffrey L Noebels, José Serratosa, Federico Zara, Ingrid E Scheffer

Open access · bronzeAbstract read
In one paragraph

Article in Epilepsia, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 1 pooled it
12.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

63 citing papers in PubMed, 1 synthesis or guideline pooled it, 194 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Current practice in diagnostic genetic testing of the epilepsiesEpileptic disorders : international epilepsy journal with videotape · 2022
    Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Putative Causal Variant onFrontiers in neurology · 2021
    Article
  12. Review
  13. Article
  14. Genomic testing in pediatric epilepsy.Cold Spring Harbor molecular case studies · 2019
    Review
  15. Review
  16. Article
  17. Multimodal Analysis ofFrontiers in neurology · 2019
    Article
  18. Current genomics · 2018
    Article
  19. Review
  20. Review

3 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 8 institutions in 7 countries.

Ruth OttmanG. H. Sergievsky Center and Department of Epidemiology, Columbia University, New York, NY, USA. ro6@columbia.edu
Shinichi Hirose
Satish Jain
Holger Lerche
Iscia Lopes-Cendes
Jeffrey L Noebels
José Serratosa
Federico Zara
Ingrid E Scheffer
Baylor College of Medicine · USColumbia University · USFukuoka University · JPHospital Universitario Fundación Jiménez Díaz · ESIstituto Giannina Gaslini · ITRoyal Children's Hospital · AUUniversidade Estadual de Campinas (UNICAMP) · BRUniversität Ulm · DE

Funding

Genetic Epidemiology of Seizure Disorders In RochesterR01NS043472 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 2002 to 2006
$6.2M
GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURESR01NS036319 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 1997 to 2007
$3.7M
Validation of a Standardized Diagnostic Interview for EpilepsyR03NS065346 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 2009 to 2010
$160k
NINDS NIH HHS R01 NS036319NINDS NIH HHS R01 NS043472NINDS NIH HHS R03 NS065346
6 · The paper itself

Abstract

In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk because of a family history (predictive testing). Although genetic testing has many potential benefits, it also has potential harms, and assessment of these potential benefits and harms in particular situations is complex. Moreover, many treating clinicians are unfamiliar with the types of tests available, how to access them, how to decide whether they should be offered, and what measures should be used to maximize benefit and minimize harm to their patients. Because the field is moving rapidly, with new information emerging practically every day, we present a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts. Given the current state of knowledge, genetic testing has high clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice.

Indexed as

Genetic TestingAdolescentAge of OnsetChildChild, PreschoolChromosome MappingDNA Mutational AnalysisEpilepsyEthics, MedicalFemaleGenetic Predisposition to DiseaseHumansInfantInfant, NewbornMalePredictive Value of Tests

Identifiers

PMID20100225
PMCPMC2855784
OpenAlexW2069231742

What OpenQuestion holds

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Registered trials

None linked

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.