Article

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

2025-03-14

Abstract excerpt

Timothy syndrome (TS) is a multisystem disorder with autistic-like features, seizures and arrhythmia as the main symptoms. Most TS cases are caused by a de novo single amino acid substitution G406R in the CACNA1C gene that encodes the pore-forming subunit of the voltage-gated L-type calcium channel Ca V 1.2. We generated a zebrafish model of TS with a homologous amino acid substitution in the cacna1c -encoded...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 535cc274-9d52-5c66-8bce-c803d4465584
DOI: 10.1101/2025.03.11.642683

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Elevated body temperature exacerbates arrhythmia and seizure-like activity in a zebrafish model of Timothy syndromeDOI 10.1101/2025.03.11.642683Read

CACNA1C-Related Channelopathies.Semantic proximity Read

Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2‐neo mouse rescued by L‐type calcium channel blockersSemantic proximity Read

Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) ChannelopathiesSemantic proximity Read

Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndromeSemantic proximity Read

Deletion of taf1 and taf5 in zebrafish capitulate cardiac and craniofacial abnormalities associated with TAFopathies through perturbations in metabolism.Semantic proximity Read

<i>kcna1a</i> mutant zebrafish as a model of episodic ataxia type 1 and epilepsySemantic proximity Read

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

Zebrafish Larvae Carrying a Splice Variant Mutation in cacna1d: A New Model for Schizophrenia-Like Behaviours?Semantic proximity Read

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment.Semantic proximity Read

<i>kcnb1</i> loss-of-function in zebrafish causes neurodevelopmental and epileptic disorders associated with GABA dysregulationSemantic proximity Read

A Mouse Model of Timothy Syndrome: a Complex Autistic Disorder Resulting from a Point Mutation in Cav1.2Semantic proximity Read

Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene.Semantic proximity Read