Evidence map›Paper›PMID 24733164›Full record

ReviewNature reviews. Neurology2014

Genetic testing in the epilepsies-developments and dilemmas.

Annapurna Poduri, Beth Rosen Sheidley, Sara Shostak, Ruth Ottman

Open access · greenAbstract readReview
In one paragraph

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 45 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 1 pooled it
6.3field-weighted citation impact, top 3% 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

45 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Genetic exploration of Dravet syndrome: two case report.Journal of medical case reports · 2024
    Article
  10. Article
  11. Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022
    Review
  12. Genetic Testing in Pediatric Epilepsy.Indian journal of pediatrics · 2021
    Review
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Tiered analysis of whole-exome sequencing for epilepsy diagnosis.Molecular genetics and genomics : MGG · 2020
    Article
  20. Article
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

4 authors at 3 institutions in 1 country.

Annapurna PoduriEpilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
Beth Rosen SheidleyEpilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
Sara ShostakDepartment of Sociology, Brandeis University, 415 South Street, Waltham, MA 02454, USA.
Ruth OttmanGertrude H. Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, and Department of Epidemiology, Mailman School of Public Health, Columbia University, 630 West 168th Street, New York, NY 10032, USA.
Boston Children's Hospital · USBrandeis University · USColumbia University · US

Funding

Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral GeneticsP50HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2013 to 2017
$5.4M
2 of 7 EPI4K - Phenotyping Clinical Informatics Core U01NS077276 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LOWENSTEIN, DANIEL H · 2011 to 2015
$3.1M
Psychosocial Impact of Genetics in EpilepsyR01NS078419 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 2012 to 2015
$2.3M
5 of 7 Epi4K: Multiplex Families & Pairs ProjectU01NS077367 · NINDS · UNIVERSITY OF MELBOURNE · PI BERKOVIC, SAMUEL FRANK, COSSETTE, PATRICK · 2011 to 2013
$1.0M
Genetics of Familial Epilepsy SyndromesK23NS069784 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI PODURI, ANNAPURNA · 2010 to 2014
$901k
NHGRI NIH HHS P50 HG007257NINDS NIH HHS K23 NS069784NINDS NIH HHS R01 NS078419NINDS NIH HHS U01 NS077276NINDS NIH HHS U01 NS077367
6 · The paper itself

Abstract

In the past two decades, the number of genes recognized to have a role in the epilepsies has dramatically increased. The availability of testing for epilepsy-related genes is potentially helpful for clarification of the diagnosis and prognosis, selection of optimal treatments, and provision of information for family planning. For some patients, identification of a specific genetic cause of their epilepsy has important personal value, even in the absence of clear clinical utility. The availability of genetic testing also raises new issues that have only begun to be considered. These issues include the growing importance of educating physicians about when and how to test patients, the need to ensure that affected individuals and their families can make informed choices about testing and receive support after receiving the results, and the question of what the positive and negative consequences of genetic testing will be for affected individuals, their family members, and society.

Indexed as

Genetic Predisposition to DiseaseEpilepsyGenetic TestingGenetic VariationHumansRisk AssessmentRisk Factors

Identifiers

PMID24733164
PMCPMC4090104
OpenAlexW1981598260

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.