Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.A480T
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CACNA1H

NM_021098.3:p.A480T

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

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

The molecular biology of genetic-based epilepsies.

Deng H et al.

Molecular Neurobiology, 2014

Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies.

Yalçın O

Seizure, 2012

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

Genetic variation of CACNA1H in idiopathic generalized epilepsy.

Heron SE et al.

Annals of Neurology, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."