Evidence map›Paper›PMID 20647993›Full record

ReviewNature reviews. Neurology2010

Genetic evaluation and counseling for epilepsy.

Deb K Pal, Amanda W Pong, Wendy K Chung

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
3.0field-weighted citation impact, top 9% 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

36 citing papers in PubMed, 89 citations in OpenAlex.

  1. Article
  2. Review
  3. Cenobamate for Difficult-to-Treat Epilepsy - Selected Case Vignettes.Neuropsychiatric disease and treatment · 2025
    Article
  4. Article
  5. Single-Base Gene Variants inInternational journal of molecular sciences · 2024
    Article
  6. Article
  7. Article
  8. Review
  9. A novelFrontiers in molecular neuroscience · 2022
    Article
  10. Genetic Testing in Pediatric Epilepsy.Indian journal of pediatrics · 2021
    Review
  11. Article
  12. Article
  13. Review
  14. Frontiers in neuroscience · 2021
    Article
  15. Article
  16. The Association BetweenFrontiers in pharmacology · 2021
    Article
  17. Article
  18. Review
  19. Genetic Polymorphism ofFrontiers in neuroscience · 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

3 authors at 2 institutions in 2 countries.

Deb K PalKing's College London, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK. dep.pal@kcl.ac.uk
Amanda W Pong
Wendy K Chung
Columbia University Irving Medical Center · USKing's College London · GB

Funding

Genetics of Rolandic EpilepsyR01NS047530 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GREENBERG, DAVID A. · 2005 to 2008
$2.1M
NINDS NIH HHS NS047530
6 · The paper itself

Abstract

The contribution of genetics to both rare and common epilepsies is rapidly being elucidated, and neurologists are routinely considering genetic testing in the work-up of several epilepsy syndromes of both known and unknown cause. Simultaneously, advances in molecular technology foreshadow additional discoveries in epilepsy etiology, implying a greater role than ever before for genetics in the epilepsy clinic. Genetic testing can be valuable not only for diagnosis but also for guiding treatment and for informing reproductive choices. In this Review, we outline the principles of genetic evaluation and counseling, and describe how to interpret genetic test results for epilepsy in the following five common clinical scenarios: Dravet syndrome, infantile spasms, epilepsy with cortical malformation, epilepsy with mental retardation, and idiopathic epilepsy syndromes. We differentiate clinical situations in which genetic testing is of high and low utility, and predict future areas for the application of genetics in epilepsy practice.

Indexed as

Genetic CounselingGenetic Predisposition to DiseaseEpilepsyGenetic TestingHumans

Identifiers

PMID20647993
OpenAlexW2080520434

What OpenQuestion holds

Textmetadata
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.