Evidence map›Paper›PMID 40133997›Full record

ArticleMolecular brain2025

Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.

Robin N Stringer, Xuechen Tang, Bohumila Jurkovicova-Tarabova, Mary Murphy, Klaus R Liedl, Norbert Weiss

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular brain, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. 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

6 authors.

Robin N StringerDepartment of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic.ORCID 0000-0002-0887-7670
Xuechen TangDepartment of General, Inorganic and Theoretical Chemistry, Center for Molecular Bioscience Innsbruck, University of Innsbruck, Innsbruck, Austria.
Bohumila Jurkovicova-TarabovaCenter of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.ORCID 0000-0002-7931-922X
Mary MurphyPatient's Family Representative, Kansas City, Missouri, USA.
Klaus R LiedlDepartment of General, Inorganic and Theoretical Chemistry, Center for Molecular Bioscience Innsbruck, University of Innsbruck, Innsbruck, Austria.ORCID 0000-0002-0985-2299
Norbert WeissDepartment of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.ORCID 0000-0002-0040-1109

Funding

Austrian Science Fund FWF #10.55776/DOC178National Institute for Research of Metabolic and Cardiovascular Diseases EXCELES # LX22NPO5104Slovenská Akadémia Vied VEGA #2/0073/22
6 · The paper itself

Abstract

Mutations in CACNA1C, the gene encoding Ca

Indexed as

Calcium Channels, L-TypeMutationNeurodevelopmental DisordersAmino Acid SequenceChildFemaleHEK293 CellsHumansIon Channel GatingMaleModels, MolecularMutation, MissenseCACNA1C protein, humanCalcium Channels, L-TypeCACNA1CCalcium channelCav1.2ChannelopathiesElectrophysiologyL658P

Identifiers

PMID40133997
PMCPMC11934713

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.