Evidence map›Paper›PMID 26008807›Full record

ReviewCurrent neurology and neuroscience reports2015

The genetics of the epilepsies.

Christelle M El Achkar, Heather E Olson, Annapurna Poduri, Phillip L Pearl

Abstract readReview
PubMed Publisher
In one paragraph

Review in Current neurology and neuroscience reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
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

15 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. From Genetic Testing to Precision Medicine in Epilepsy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020
    Review
  5. Review
  6. Article
  7. Review
  8. [Genetic variations and epilepsy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017
    Article
  9. Article
  10. Article
  11. Review
  12. Epilepsy currents
    Article
  13. Review
  14. Article
  15. 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.

Christelle M El AchkarDivision of Epilepsy, Department of Neurology, Boston Children's Hospital, and Harvard Medical School, Fegan 9, 300 Longwood Ave, Boston, MA, 02115, USA, Christelle.achkar@childrens.harvard.edu.
Heather E Olson
Annapurna Poduri
Phillip L Pearl

Funding

Children's Hospital Boston Neurological Sciences Academic Development AwardK12NS079414 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2012 to 2016
$1.2M
NINDS NIH HHS 5K12 NS079414-02
6 · The paper itself

Abstract

While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mechanisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling.

Indexed as

AnimalsChannelopathiesEpilepsyGenetic CounselingGenetic TestingHumansMutation

Identifiers

What OpenQuestion holds

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Registered trials

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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.