Evidence map›Paper›PMID 39513870›Full record

ReviewCells2024

Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.

Khadijeh Shabani, Johannes Krupp, Emilie Lemesre, Nicolas Lévy, Helene Tran

Abstract readReview
In one paragraph

Review in Cells, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. 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

5 authors.

Khadijeh ShabaniInstitut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.ORCID 0000-0001-8913-3253
Johannes KruppInstitut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.
Emilie LemesreInstitut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.ORCID 0000-0003-2314-1570
Nicolas LévyInstitut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.
Helene TranInstitut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Developmental and Epileptic Encephalopathies (DEEs) represent a clinically and genetically heterogeneous group of rare and severe epilepsies. DEEs commonly begin early in infancy with frequent seizures of various types associated with intellectual disability and leading to a neurodevelopmental delay or regression. Disease-causing genomic variants have been identified in numerous genes and are implicated in over 100 types of DEEs. In this context, genes encoding voltage-gated ion channels (VGCs) play a significant role, and part of the large phenotypic variability observed in DEE patients carrying VGC mutations could be explained by the presence of genetic modifier alleles that can compensate for these mutations. This review will focus on the current knowledge of the compensatory effect of DEE-associated voltage-gated ion channels and their therapeutic implications in DEE. We will enter into detailed considerations regarding the sodium channels SCN1A, SCN2A, and SCN8A; the potassium channels KCNA1, KCNQ2, and KCNT1; and the calcium channels CACNA1A and CACNA1G.

Indexed as

EpilepsyAnimalsHumansIon ChannelsMutationVoltage-Gated Sodium ChannelsIon ChannelsVoltage-Gated Sodium Channelscompensatory effectDevelopmental and Epileptic Encephalopathy (DEE)ion channels

Identifiers

PMID39513870
PMCPMC11544952

What OpenQuestion holds

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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.