Evidence map›Paper›PMID 38578438›Full record

ArticleHuman genetics2024

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.

Ahmed N Sahly, Juan Sierra-Marquez, Stefanie Bungert-Plümke, Arne Franzen, Lina Mougharbel, Saoussen Berrahmoune, Christelle Dassi, Chantal Poulin, Myriam Srour, Raul E Guzman and 1 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

7 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Disruption of ClC-3-mediated 2ClScientific reports · 2025
    Article
  5. Article
  6. Review
  7. 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

11 authors at 3 institutions in 3 countries.

Ahmed N SahlyDivision of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.
Juan Sierra-MarquezInstitute of Biological Information Processing; Biological Molecular and Cell Physiology (IBI-1), Molecular and Cell Physiology, Research Center Jülich , GmbH Leo-Brandt-Strasse 1, 52428, Jülich, Germany.
Stefanie Bungert-PlümkeInstitute of Biological Information Processing; Biological Molecular and Cell Physiology (IBI-1), Molecular and Cell Physiology, Research Center Jülich , GmbH Leo-Brandt-Strasse 1, 52428, Jülich, Germany.
Arne FranzenInstitute of Biological Information Processing; Biological Molecular and Cell Physiology (IBI-1), Molecular and Cell Physiology, Research Center Jülich , GmbH Leo-Brandt-Strasse 1, 52428, Jülich, Germany.
Lina MougharbelResearch Institute of the McGill University Medical Centre, Montreal, QC, Canada.
Saoussen BerrahmouneResearch Institute of the McGill University Medical Centre, Montreal, QC, Canada.
Christelle DassiResearch Institute of the McGill University Medical Centre, Montreal, QC, Canada.
Chantal PoulinDivision of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.
Myriam SrourDivision of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.
Raul E Guzman *Institute of Biological Information Processing; Biological Molecular and Cell Physiology (IBI-1), Molecular and Cell Physiology, Research Center Jülich , GmbH Leo-Brandt-Strasse 1, 52428, Jülich, Germany. r.guzman@fz-juelich.de.
Kenneth A Myers *Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada. kenneth.myers@mcgill.ca.ORCID http://orcid.org/0000-0001-7831-4593
Forschungszentrum Jülich · DEMontreal Children's Hospital · CAMcGill University Health Centre · CA

Funding

Deutsche Forschungsgemeinschaft GU 2042/2-1Fonds de Recherche du Québec - Santé 282228, 295639
6 · The paper itself

Abstract

CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl

Indexed as

Chloride ChannelsEpilepsyGenetic Association StudiesChildChild, PreschoolHumansInfantMaleMutationPhenotypeChloride ChannelsCLCN4 protein, human2Cl−/H+ exchangerCLCN4Developmental and epileptic encephalopathyDrug resistant epilepsyIntellectual disabilityRecurrent status epilepticus

Identifiers

PMID38578438
OpenAlexW4393989380

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.