Related Experiment Video
Updated: Jan 21, 2026

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
Published on: April 22, 2015
Association Study of Sequence Variants in Voltage-gated Ca2+ Channel Subunit Alpha-1C and Autism Spectrum Disorders
Arezou Sayad1, Soudeh Ghafouri-Fard1, Rezvan Noroozi2
1Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
Background:
Autism spectrum disorders (ASDs) (MIM 209850) are a group of distinct neurodevelopmental disorders characterized by impaired social interactions and communication abilities and abnormal repetitive activities. Many genetic variants have been shown to be associated with ASD. Channelopathies are among putative culprits in the pathogenesis of many neurodevelopmental disorders, including autism. The calcium channel, voltage-dependent, L type, alpha 1C subunit gene (CACNA1C) encodes an alpha-1 subunit of a voltage-dependent calcium channel. Genetic variants within this gene have been associated with psychiatric disorders including Autism Spectrum Disorders (ASD). Our aim was to determine whether the SNPs rs1006737, rs4765905, and rs4765913 were associated with ASD in an Iranian population.
Methods:
In the present case-control study we investigated the associations of rs1006737, rs4765905, and rs4765913 polymorphisms within CACNA1C and the risk of ASD in a population of 529 Iranian ASD patients and 480 age, gender, and ethnicity-matched healthy subjects.
Results:
None of these SNPs were associated with ASD risk in the assessed population. Although previous studies have shown an association between these polymorphisms and psychiatric disorders and an association between rs4765905 and ASD, we did not replicate those results in our study.
Conclusion:
Our data indicate that these CACNA1C variants are not involved in the pathogenesis of ASD in the Iranian population.
More Related Videos
08:17A Semantic Priming Event-related Potential ERP Task to Study Lexico-semantic and Visuo-semantic Processing in Autism Spectrum Disorder
Published on: April 12, 2018
08:30Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
Published on: September 6, 2024
Related Concept Videos
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Voltage-gated Ion Channels
Generally, all voltage-gated ion channels have a 'voltage-sensing domain' that spans the lipid bilayer. The charged residues in the sensor move in response to the membrane potential changes that open the channel allowing ions movement. There are several types of...
Non-gated Ion Channels
Compared to the gated ion channels, the non-gated channels, also known as leakage or passive channels, have no gating mechanism....
Mechanically-gated Ion Channels
Ligand-Gated Ion Channel Receptor: Gating Mechanism
G-Protein Gated Ion Channels
Sensory...