Evidence map›Paper›PMID 42426153›Full record

ReviewEuropean journal of human genetics : EJHG2026

Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.

Jack F G Underwood, Katherine W Timothy, Holly Tyroll, Rebecca J Levy, Ivy E Dick, Geoffrey S Pitt, Elizabeth M Tunbridge, Anwar Baban, Gemma Wilkinson, Nicola A L Hall and 5 more

Abstract readReview
PubMed Publisher
In one paragraph

Review in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Biological psychiatry global open science · 2026
    Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Jack F G UnderwoodNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK. underwoodj4@cardiff.ac.uk.ORCID http://orcid.org/0000-0003-1731-6039
Katherine W TimothyThe Timothy Syndrome Foundation, Charitable Organization, Brigham City, UT, USA.
Holly TyrollNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.
Rebecca J LevyDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0003-0393-6835
Ivy E DickDepartment of Pharmacology and Physiology, University of Maryland, School of Medicine, Baltimore, MD, USA.
Geoffrey S PittCardiovascular Research Institute, Weill Cornell Medicine, New York, NY, USA.
Elizabeth M TunbridgeDepartment of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK.
Anwar BabanThe European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.
Gemma WilkinsonNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.
Nicola A L HallDepartment of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK.ORCID http://orcid.org/0000-0002-3393-3494
Georgia Sarquella BrugadaThe European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-6857-8904
Rosemary BauerThe Timothy Syndrome Foundation, Charitable Organization, Brigham City, UT, USA.
Dominic AbramsDepartment of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Jeremy HallNeuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.
Timothy Syndrome Alliance (TSA)

Funding

Next-generation calcium channel modulatorsR01HL149926 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI Ivy E Dick · 2020 to 2026
$3.4M
Investigating the role of CaV1.2 in aortic valve stenosisR01HL151190 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI PITT, GEOFFREY S · 2020 to 2023
$3.2M
Dynamic changes of the Nav1.5 interactome and contributions to heart failureR01HL160089 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI MARX, STEVEN O, PITT, GEOFFREY S · 2021 to 2024
$2.7M
Dissecting the Role of Ca2+ Channel Dysfunction in the Pathogenesis of Neurodevelopmental DisordersR01MH137160 · NIMH · UNIVERSITY OF MARYLAND BALTIMORE · PI Ivy E Dick · 2025 to 2026
$1.4M
Determining How CACNA1C Variants Cause Interneuron PathophysiologyK08NS136775 · NINDS · STANFORD UNIVERSITY · PI REBECCA Jeannette LEVY · 2025 to 2026
$447k
NHLBI NIH HHS R01 HL149926NHLBI NIH HHS R01 HL151190NHLBI NIH HHS R01 HL160089NIMH NIH HHS R01 MH137160NINDS NIH HHS K08 NS136775U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R01MH137160U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) NINDS K08 - 1K08NS13677501A1Wellcome Trust (Wellcome) 222849/Z/21/Z
6 · The paper itself

Abstract

Timothy syndrome is a multisystemic genetic disorder, classically characterised by prolonged QT interval and subsequent cardiac arrhythmias, neurodevelopmental disorders including developmental delay and autism and syndactyly or hip dysplasia. It is caused by variants in the CACNA1C gene, which encodes the widely expressed Ca

Identifiers

PMID42426153

What Socratic 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 Socratic graph.