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
CaV3.3 Channelopathies.
El Ghaleb Y et al.
Handbook of Experimental Pharmacology, 2023
Neuronal Cav3 channelopathies: recent progress and perspectives.
Lory P et al.
Pflugers Archiv : European Journal of Physiology, 2020
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
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
The Role of Calcium Channels in Epilepsy.
Rajakulendran S et al.
Cold Spring Harbor Perspectives in Medicine, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.
Eckle VS et al.
The Journal of Physiology, 2014
The role of T-type calcium channel genes in absence seizures.
Chen Y et al.
Frontiers in Neurology, 2014
Characterization of the gating brake in the I-II loop of Ca(v)3.2 T-type Ca(2+) channels.
Arias-Olguín II et al.
The Journal of Biological Chemistry, 2008
A polygenic heterogeneity model for common epilepsies with complex genetics.
Dibbens LM et al.
Genes, Brain, and Behavior, 2007
The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations.
Vitko I et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies.
Zhong X et al.
Human Molecular Genetics, 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
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.
Khosravani H et al.
The Journal of Biological Chemistry, 2004
Association between genetic variation of CACNA1H and childhood absence epilepsy.
Chen Y et al.
Annals of Neurology, 2003
Characterization of the gating brake in the I-II loop of CaV3 T-type calcium channels.
Perez-Reyes E
Channels (austin, Tex.), 0