Phenotypic Characterization of Timothy Syndrome Caused by the <i>CACNA1C</i> p.Gly402Ser Variant-Reference-Cited by-同舟云学术

Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant

Published:2023-06 Issue:3 Volume:16 Page:280-282
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Delinière Antoine¹²^ORCID,Haddad Christelle¹,Herrera-Siklódy Claudia³^ORCID,Hermida Alexis⁴^ORCID,Pruvot Etienne³^ORCID,Bressieux-Degueldre Sabrina⁵^ORCID,Millat Gilles⁶^ORCID,Janin Alexandre⁶^ORCID,Hermida Jean-Sylvain⁴^ORCID,Asatryan Babken⁷^ORCID,Chevalier Philippe¹²^ORCID

Affiliation:

1. National Reference Center for Inherited Arrhythmias of Lyon, Department of Cardiac Electrophysiology, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon (HCL), Lyon, France (A.D., C.H., P.C.).

2. University of Lyon, Claude Bernard Lyon 1 University, MeLiS, CNRS UMR 5284, INSERM U1314, Institut NeuroMyoGène, Lyon, France (A.D., P.C.).

3. Arrhythmia Unit, Department of Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (C.H.-S., E.P.).

4. Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France (A.H., J.-S.H.).

5. Pediatric Cardiology Unit, Woman-Mother-Child Department, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (S.B.-D.).

6. Cardiogenetic laboratory, Centre de biologie et pathologie Est, Hospices Civils de Lyon (HCL), Lyon, France (G.M., A.J.).

7. Department of Cardiology, Inselspital, Bern University Hospital, Bern, Switzerland (B.A.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference5 articles.

1. The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet.;Reichenbach H;Kinderarztl Prax,1992

2. A multicentre study of patients with Timothy syndrome

3. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

4. Calcium Revisited

5. Use of ranolazine as rescue therapy in a patient with Timothy syndrome type 2

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