Timothy Syndrome Latest Advances

Find the Latest Research About Timothy Syndrome

Last Updated: 04/28/2026

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Found 159 publications

Structural Insights into L-Type Voltage-Gated Ca2+ Channel (CaV1.2) Activation by CaBP1.

Structural Insights into L-Type Voltage-Gated Ca2+ Channel (CaV1.2) Activation by CaBP1.

Journal: Biochemistry
Published: March 20, 2026

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

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

Journal: Research square
Published: December 03, 2025

A novel computational model of human iPSC-derived ventricular myocytes with improved L-type calcium current for application to Timothy syndrome.

A novel computational model of human iPSC-derived ventricular myocytes with improved L-type calcium current for application to Timothy syndrome.

Journal: Scientific reports
Published: October 10, 2025

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

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.

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.

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.

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.

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.

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.

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.

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.

A Natural History Study of Timothy Syndrome.

Journal: medRxiv : the preprint server for health sciences
Published: June 03, 2024
Showing 1-12 of 159

Last Updated: 04/28/2026