Associated Papers
Autism associated mutation in Cacna1d causes perseverative behavioral phenotype in mice.
Otsuka S et al.
Biorxiv : the Preprint Server for Biology, 2026
Inactivation induced by pathogenic Cav1.3 L-type Ca2+-channel variants enhances sensitivity for dihydropyridine Ca2+ channel blockers.
Török F et al.
British Journal of Pharmacology, 2025
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.
Tang X et al.
European Journal of Human Genetics : Ejhg, 2024
L-type calcium channels and neuropsychiatric diseases: Insights into genetic risk variant-associated genomic regulation and impact on brain development.
Baker MR et al.
Channels (austin, Tex.), 2023
The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ et al.
Jci Insight, 2023
Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.
Alzahrani A et al.
Frontiers in Neurology, 2023
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.
Rinné S et al.
International Journal of Molecular Sciences, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 2021
Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.
Liao X et al.
Molecular Brain, 2020
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer NT et al.
Molecular Autism, 2020
Timeline of Advances in Genetics of Primary Aldosteronism.
Meyer LS et al.
Experientia Supplementum (2012), 2019
Autism throughout genetics: Perusal of the implication of ion channels.
Daghsni M et al.
Brain and Behavior, 2018
Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels.
Pinggera A et al.
Channels (austin, Tex.), 2018
Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.
Mäki-Marttunen T et al.
Translational Psychiatry, 2017
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.
Pinggera A et al.
Human Molecular Genetics, 2017
Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders.
Pinggera A et al.
The Journal of Physiology, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2+)-dependent regulation.
Limpitikul WB et al.
Scientific Reports, 2016
CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.
Pinggera A et al.
Biological Psychiatry, 2015
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S et al.
Nature, 2014