Timothy Syndrome Latest Advances

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.

Journal: Research square

Published: December 03, 2025

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.

Journal: The Journal of physiology

Published: July 29, 2025

Elevated body temperature exacerbates arrhythmia and seizure-like activity in a zebrafish model of Timothy syndrome.

Journal: bioRxiv : the preprint server for biology

Published: June 26, 2025

Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders-Part II.

Journal: Diagnostics (Basel, Switzerland)

Published: April 27, 2025

Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.

Journal: Journal of cardiovascular translational research

Published: February 28, 2025

Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.

Journal: Cerebral cortex (New York, N.Y. : 1991)

Published: December 20, 2024

CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype.

Journal: JACC. Case reports

Published: December 16, 2024

CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype.

Journal: JACC. Case reports

Published: December 16, 2024

Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome.

Journal: Nature cardiovascular research

Published: August 28, 2024

Synaptic plasticity deficits in a mouse model of Timothy syndrome: LTP saturation and its pharmacological rescue by nifedipine.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: August 26, 2024

A Natural History Study of Timothy Syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: June 03, 2024

A genetic rescue strategy for Timothy syndrome.

Journal: Nature biotechnology

Published: May 17, 2024