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

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

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

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

Nutritional Factors and Arrhythmic Risk in Long QT Syndrome: A Narrative Review of Mechanistic and Clinical Evidence.

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

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

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

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

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

Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.

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

A novel computational model of swine ventricular myocyte reveals new insights into disease mechanisms and therapeutic approaches in Timothy Syndrome.

A Natural History Study of Timothy Syndrome.

A case of pioneering subcutaneous implantable cardioverter defibrillator intervention in Timothy syndrome.

Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.

Potential Therapy Corrects Calcium Signaling in Timothy Syndrome.

Deciphering the physiopathology of neurodevelopmental disorders using brain organoids.

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

Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation.

The evolution of mammalian Rem2: unraveling the impact of purifying selection and coevolution on protein function, and implications for human disorders.

Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.

Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.

Making sense of Timothy syndrome with 3D human neuronal models.

Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.

A genetic rescue strategy for Timothy syndrome.

Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know.

ASO to treat Timothy syndrome.

Antisense oligonucleotide therapeutic approach for Timothy syndrome.

Targeting RNA opens therapeutic avenues for Timothy syndrome.

An unruly case of functional 2:1 atrioventricular block.

International Cohort of Neonatal Timothy Syndrome.

Using CRISPR knock-in of fluorescent tags to examine isoform-specific expression of EGL-19 in C. elegans.

Inactivation influences the extent of inhibition of voltage-gated Ca+2 channels by Gem-implications for channelopathies.

Hypertrophic cardiomyopathy and long QT syndrome in cardiac-only Timothy syndrome.

Roadmap for developing biologically inspired therapeutics for genetic brain disorders.

Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation).

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.

Syndromic forms of congenital hyperinsulinism.

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

CACNA1C-Related Channelopathies.

Unexpected impairment of INa underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome.

Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.

A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.

Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series.

The road to the brain in Timothy syndrome is paved with enhanced CaV1.2 activation gating.

Human cerebral organoids - a new tool for clinical neurology research.

Maturation and circuit integration of transplanted human cortical organoids.

CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms.

The CaV1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca2+ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome.

Sigma non-opioid receptor 1 is a potential therapeutic target for long QT syndrome.

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome.

Congenital Long QT Syndrome: A Review of Genetic and Pathophysiologic Etiologies, Phenotypic Subtypes, and Clinical Management.

Quickly moving too slowly: Interneuron migration in Timothy Syndrome.

Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome.

Involvement of Calcium-Dependent Pathway and β Subunit-Interaction in Neuronal Migration and Callosal Projection Deficits Caused by the Cav1.2 I1166T Mutation in Developing Mouse Neocortex.

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

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Machine Learning Techniques to Classify Healthy and Diseased Cardiomyocytes by Contractility Profile.

Update on the Molecular Genetics of Timothy Syndrome.

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation.

An autism-associated calcium channel variant causes defects in neuronal polarity in the ALM neuron of C. elegans.

Expanding the phenotype of CACNA1C mutation disorders.

Neurologic complications of genetic channelopathies.

Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine.

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

Voltage-Gated Calcium Channels in Nonexcitable Tissues.

Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly.

Timothy syndrome iPSC modeling.

Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.

A mouse model of Timothy syndrome exhibits altered social competitive dominance and inhibitory neuron development.

Elevated basal transcription can underlie timothy channel association with autism related disorders.

High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8.

CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers.

Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome.

An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior.

Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype.

Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside.

Cardiac-only Timothy Syndrome (COTS): Peripartum Cardiomyopathy and Long QT Syndrome.

Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.

Atomic Mechanisms of Timothy Syndrome-Associated Mutations in Calcium Channel Cav1.2.

Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers.

Dynamic QT Changes in Long QT Syndrome Type 8.

A C. elegans model for the rare human channelopathy, Timothy syndrome type 1.

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Dynamic Electrocardiographic Abnormalities Captured in Timothy Syndrome.

Enhanced oligodendrocyte maturation and myelination in a mouse model of Timothy syndrome.

Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects.

A Critical Neurodevelopmental Role for L-Type Voltage-Gated Calcium Channels in Neurite Extension and Radial Migration.

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.

The landscape of human mutually exclusive splicing.

A case report: Is mexiletine usage effective in the shortening of QTC interval and improving the T-wave alternans in Timothy syndrome?

Auditory processing enhancements in the TS2-neo mouse model of Timothy Syndrome, a rare genetic disorder associated with autism spectrum disorders.

Depletion of Stercobilin in Fecal Matter from a Mouse Model of Autism Spectrum Disorders.

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

Computational Cardiac Modeling Reveals Mechanisms of Ventricular Arrhythmogenesis in Long QT Syndrome Type 8: CACNA1C R858H Mutation Linked to Ventricular Fibrillation.

Altered Cav1.2 function in the Timothy syndrome mouse model produces ascending serotonergic abnormalities.

Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder.

Inhibition of CDK5 Alleviates the Cardiac Phenotypes in Timothy Syndrome.

Assembly of functionally integrated human forebrain spheroids.

A multicentre study of patients with Timothy syndrome.

TRPM4 non-selective cation channel variants in long QT syndrome.

Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.

Activity-dependent regulation of T-type calcium channels by submembrane calcium ions.

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.

Rare Cause of Infranodal Block.

Studying the pathophysiologic connection between cardiovascular and nervous systems using stem cells.

A case of Timothy syndrome with adrenal medullary dystrophy.

Pro-arrhythmogenic effects of CACNA1C G1911R mutation in human ventricular tachycardia: insights from cardiac multi-scale models.

Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD).

Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.

Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.

Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2).

Sequential ionic and conformational signaling by calcium channels drives neuronal gene expression.

Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.

Induced Pluripotent Stem Cells as a Novel Tool in Psychiatric Research.

Induced pluripotent stem cells for modeling neurological disorders.

Modeling psychiatric disorders with patient-derived iPSCs.

Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease.

Modeling developmental neuropsychiatric disorders with iPSC technology: challenges and opportunities.

A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8).

Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.

Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?

Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism.

Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.

Dual optical recordings for action potentials and calcium handling in induced pluripotent stem cell models of cardiac arrhythmias using genetically encoded fluorescent indicators.

Genome engineering of isogenic human ES cells to model autism disorders.

Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.

Induced pluripotent stem cells and their use in cardiac and neural regenerative medicine.

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.