Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy

Ken Kelu Bisabu; Juan Zhao; Alla-Eddine Mokrane; Émilie Segura; Mireille Marsolais; Steffany Grondin; Evelyne Naas; Johannie Gagnon; Julia Cadrin-Tourigny; Martin Aguilar; François-Pierre Mongeon; Mario Talajic; Lucie Parent; Rafik Tadros

doi:10.1161/CIRCGEN.120.003123

Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy

Circ Genom Precis Med. 2020 Dec;13(6):e003123. doi: 10.1161/CIRCGEN.120.003123. Epub 2020 Nov 14.

Authors

Ken Kelu Bisabu^{1

2

3}, Juan Zhao^{2

4}, Alla-Eddine Mokrane^{2

3

4}, Émilie Segura^{2

4}, Mireille Marsolais^{2

4}, Steffany Grondin^{1

2

3}, Evelyne Naas¹, Johannie Gagnon¹, Julia Cadrin-Tourigny^{1

2

3}, Martin Aguilar^{2

3}, François-Pierre Mongeon^{1

2

3}, Mario Talajic^{1

2

3}, Lucie Parent^{2

4}, Rafik Tadros^{1

2

3

4}

Affiliations

¹ Cardiovascular Genetics Center (K.K.B., S.G., E.N., J.G., J.C.-T., F.-P.M., M.T., R.T.), Montreal Heart Institute, Canada.
² Research Center (K.K.B., J.Z., A.-E.M., E.S., M.M., S.G., J.C.-T., M.A., F.-P.M., M.T., L.P., R.T.), Montreal Heart Institute, Canada.
³ Département de Médecine (K.K.B., A.-E.M., S.G., J.C.-T., M.A., F.-P.M., M.T., R.T.), Faculté de Médecine, Université de Montréal, Canada.
⁴ Département de Pharmacologie et Physiologie (J.Z., A.-E.M., E.S., M.M., L.P., R.T.), Faculté de Médecine, Université de Montréal, Canada.

PMID: 33191761
DOI: 10.1161/CIRCGEN.120.003123

No abstract available

Keywords: Wolff-Parkinson-White syndrome; calcium channels; cardiomyopathies; electrophysiology; long QT syndrome.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Autistic Disorder / diagnostic imaging
Autistic Disorder / genetics*
Autistic Disorder / physiopathology
Base Sequence
Calcium Channels, L-Type / genetics*
Cardiomyopathies / diagnostic imaging
Cardiomyopathies / genetics*
Cardiomyopathies / physiopathology
Child, Preschool
Electrocardiography
Electrophysiological Phenomena
Gain of Function Mutation / genetics*
Genetic Association Studies*
Genetic Predisposition to Disease*
Humans
Long QT Syndrome / diagnostic imaging
Long QT Syndrome / genetics*
Long QT Syndrome / physiopathology
Syndactyly / diagnostic imaging
Syndactyly / genetics*
Syndactyly / physiopathology

Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy

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