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
Association of valproic acid-related pharmacodynamics, pharmacokinetic pathways and transporter gene polymorphisms and antiepileptic efficacy in Chinese patients.
Wang L et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Double CYP11B1/CYP11B2 Immunohistochemistry and Detection of KCNJ5 Mutations in Primary Aldosteronism.
Caroccia B et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
Maksemous N et al.
Molecular Neurobiology, 2023
CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD et al.
Human Mutation, 2020
Paracetamol and Pain Modulation by TRPV1, UGT2B15, SULT1A1 Genotypes: A Randomized Clinical Trial in Healthy Volunteers.
Pickering G et al.
Pain Medicine (malden, Mass.), 2020
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.
Lyons JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
Lee CG et al.
Plos One, 2018
Genetic epilepsy with febrile seizures plus: Refining the spectrum.
Zhang YH et al.
Neurology, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.
Eckle VS et al.
The Journal of Physiology, 2014
Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.
Sun HY et al.
Journal of Chemical Information and Modeling, 2013
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
A genome-wide association study of hypertension and blood pressure in African Americans.
Adeyemo A et al.
Plos Genetics, 2009
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Heron SE et al.
Annals of Neurology, 2007
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
New variants in the CACNA1H gene identified in childhood absence epilepsy.
Liang J et al.
Neuroscience Letters, 2006
Molecular characterization of T-type calcium channels.
Perez-Reyes E
Cell Calcium, 2006
Biophysics and structure-function relationship of T-type Ca2+ channels.
Talavera K et al.
Cell Calcium, 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
Susceptibility genes for complex epilepsy.
Mulley JC et al.
Human Molecular Genetics, 2005
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 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
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