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
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 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
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
Meyer K et al.
Cell, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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
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
Characterization of the gating brake in the I-II loop of CaV3 T-type calcium channels.
Perez-Reyes E
Channels (austin, Tex.), 0
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