Evidence map›Paper›PMID 22290576›Full record

ArticleNature reviews. Neurology2012

Epilepsy. Genetics of early-onset epilepsy with encephalopathy.

Rima Nabbout, Olivier Dulac

Abstract readComment
PubMed Publisher
In one paragraph

Article in Nature reviews. Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Article
  2. Journal of pediatric genetics · 2023
    Article
  3. Review
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  5. Article
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  7. Article
  8. Review
  9. Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.Proceedings of the National Academy of Sciences of the United States of America · 2012
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

Rima NabboutCentre de Reference Epilepsies Rares, Department of Neuropediatrics, INSERM U663, Université Paris Descartes, Hôpital Necker, 149 Rue de Sèvres, Paris, France. rimanabbout@yahoo.com
Olivier Dulac

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?

Indexed as

Genetic Predisposition to DiseasePhenotypeCognition DisordersDNA Copy Number VariationsEpilepsyEpilepsy, Benign NeonatalFemaleHumansKCNQ2 Potassium ChannelMaleMutationKCNQ2 Potassium Channel

Identifiers

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.