Evidence map›Paper›PMID 17618539›Full record

ReviewCurrent neurology and neuroscience reports2007

The state of the art in the genetic analysis of the epilepsies.

David A Greenberg, Deb K Pal

Open access · greenAbstract readReview
In one paragraph

Review in Current neurology and neuroscience reports, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
5.6field-weighted citation impact, top 4% 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Canine epilepsy genetics.Mammalian genome : official journal of the International Mammalian Genome Society · 2012
    Review
  6. Article
  7. Genetic evaluation and counseling for epilepsy.Nature reviews. Neurology · 2010
    Review
  8. Gene polymorphisms and their role in epilepsy treatment and prognosis.Naunyn-Schmiedeberg's archives of pharmacology · 2010
    Review
  9. Curing epilepsy: progress and future directions.Epilepsy & behavior : E&B · 2009
    Review
  10. Genetics and epilepsy.Dialogues in clinical neuroscience · 2008
    Review
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

2 authors at 1 institution in 1 country.

David A GreenbergDivision of Statistical Genetics, Mailman School of Public Health, Columbia University Medical Center, 122 West 168th Street, 6th Floor, New York, NY 10032, USA. dag2005@columbia.edu
Deb K Pal
Columbia University Irving Medical Center · US

Funding

RESOLVING HETEROGENEITY IN EPILEPSY WITH GENETIC MARKERSR01NS027941 · NINDS · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GREENBERG, DAVID A. · 1990 to 2010
$9.0M
Genetics of Rolandic EpilepsyR01NS047530 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GREENBERG, DAVID A. · 2005 to 2008
$2.1M
TWO-LOCUS MODELS--HETEROGENEITY AND DIABETESR01DK031775 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GREENBERG, DAVID A. · 1987 to 2006
$1.1M
NIDDK NIH HHS DK31775NIDDK NIH HHS R01 DK031775NINDS NIH HHS NS047530NINDS NIH HHS NS27941NINDS NIH HHS R01 NS027941NINDS NIH HHS R01 NS047530
6 · The paper itself

Abstract

Genetic influences as causal factors in the epilepsies continue to be vigorously investigated, and we review several important studies of genes reported in 2006. To date, mutations in ion channel and neuroreceptor component genes have been reported in the small fraction of cases with clear Mendelian inheritance. These findings confirm that the so-called "channelopathies" are generally inherited as monogenic disorders. At the same time, the literature in common epilepsies abounds with reports of associations and reports of nonreplication of those association studies, primarily with channel genes. These contradictory reports can mostly be explained by confounding factors unique to genetic studies. The methodology of genetic studies and their common biases and confounding factors are also explained in this review. Amid the controversy, steady progress is being made on the epilepsies of complex inheritance, which represent the most common idiopathic epilepsy. Recent discoveries show that genes influencing the developmental assembly of neural circuits and neuronal metabolism may play a more prominent role in the common epilepsies than genes affecting membrane excitability and synaptic transmission.

Indexed as

Bromodomain Containing ProteinsCalcium-Binding ProteinsCalcium ChannelsEpilepsyGenetic LinkageHumansProtein Serine-Threonine KinasesReceptors, GABATranscription FactorsTwin Studies as TopicBRD2 protein, humanBromodomain Containing ProteinsCalcium-Binding ProteinsCalcium ChannelsEFHC1 protein, humanProtein Serine-Threonine KinasesReceptors, GABATranscription Factors

Identifiers

PMID17618539
PMCPMC2039773
OpenAlexW1999738897

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.