ArticleResearch square2025
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 6 more
Abstract readPreprint
In one paragraphArticle in Research square, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
16 authors.
Jack F G UnderwoodCardiff University.
Katherine W TimothyThe Timothy Syndrome Foundation.
Holly TyrollCardiff University.
Rebecca J LevyStanford University.
Ivy E DickUniversity of Maryland, Baltimore.
Geoffrey S PittCornell University.
Elizabeth M TunbridgeUniversity of Oxford.
Anwar BabanERN GUARD-Heart.
Gemma WilkinsonCardiff University.
Nicola A L HallUniversity of Oxford.
Georgia Sarquella BrugadaERN GUARD-Heart.
Rosemary BauerThe Timothy Syndrome Foundation.
Dominic AbramsBoston Children's Hospital.
Jeremy HallCardiff University.
Timothy Syndrome Foundation
Timothy Syndrome Alliance (TSA)
Funding
Phosphorylation-dependent regulation of calcium channels by macromolecular complexesR01HL146149 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Steven O Marx, Geoffrey S Pitt · 2019 to 2026
$5.0MNext-generation calcium channel modulatorsR01HL149926 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI Ivy E Dick · 2020 to 2026
$3.4MInvestigating the role of CaV1.2 in aortic valve stenosisR01HL151190 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI PITT, GEOFFREY S · 2020 to 2023
$3.2MDynamic 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
$2.7MDissecting the Role of Ca2+ Channel Dysfunction in the Pathogenesis of Neurodevelopmental DisordersR01MH137160 · NIMH · UNIVERSITY OF MARYLAND BALTIMORE · PI Ivy E Dick · 2025 to 2026
$1.4MDetermining How CACNA1C Variants Cause Interneuron PathophysiologyK08NS136775 · NINDS · STANFORD UNIVERSITY · PI REBECCA Jeannette LEVY · 2025 to 2026
$447kNHLBI NIH HHS R01 HL146149NHLBI NIH HHS R01 HL149926NHLBI NIH HHS R01 HL151190NHLBI NIH HHS R01 HL160089NIMH NIH HHS R01 MH137160NINDS NIH HHS K08 NS136775Wellcome Trust
6 · The paper itselfAbstract
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
Indexed as
CACNA1C-Related Disorderscardiac arrhythmiadevelopmental delayLong QTsyndactylyTimothy Syndrome
Identifiers
PMID41333400
PMCPMC12668126
What Socratic holds
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