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
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.
Sourbron J et al.
Neuropediatrics, 2022
An enigmatic case of cardiac death in an 18-years old girl.
Lanza GA et al.
European Review for Medical and Pharmacological Sciences, 2021
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
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.
Eckle VS et al.
The Journal of Physiology, 2014
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
A polygenic heterogeneity model for common epilepsies with complex genetics.
Dibbens LM et al.
Genes, Brain, and Behavior, 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
Genetic variation of CACNA1H in idiopathic generalized epilepsy.
Heron SE et al.
Annals of Neurology, 2004
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