Associated Papers
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.
Matsumoto A et al.
Journal of Human Genetics, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic
CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD et al.
Human Mutation, 2020
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
Long S et al.
Frontiers in Neurology, 2019
31139143 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S1__gene_and_CNV
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
24136861 (PubMed )
Supplement: jmedgenet-2013-101917-s1.pdf
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.
Peloquin JB et al.
Epilepsia, 2006
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel.
Vitko I et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Association between genetic variation of CACNA1H and childhood absence epilepsy.
Chen Y et al.
Annals of Neurology, 2003
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