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
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L et al.
Molecular Genetics & Genomic Medicine, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Hammer MF et al.
Plos One, 2017
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
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Role of voltage-gated calcium channels in epilepsy.
Zamponi GW et al.
Pflugers Archiv : European Journal of Physiology, 2010
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
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
Biophysics and structure-function relationship of T-type Ca2+ channels.
Talavera K et al.
Cell Calcium, 2006
[The effect of CACNA1H gene G773D mutation on calcium channel function].
Wang JL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
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 analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.
Peloquin JB et al.
Epilepsia, 2006
Susceptibility genes for complex epilepsy.
Mulley JC et al.
Human Molecular Genetics, 2005
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
[T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy].
Lü JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
Association between genetic variation of CACNA1H and childhood absence epilepsy.
Chen Y et al.
Annals of Neurology, 2003
Genetic variants in absence epilepsy: a contextual consideration of calcium current kinetics.
Lagrange A
Epilepsy Currents, 0
Characterization of the gating brake in the I-II loop of CaV3 T-type calcium channels.
Perez-Reyes E
Channels (austin, Tex.), 0