Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.V664A
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CACNA1H

NM_021098.3:p.V664A

Associated Papers

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

36786913 (PubMed )
Supplement: 12035_2023_3255_MOESM1_ESM.xlsx › Supplementary_Table_1

Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.

Glauser TA et al.

Annals of Neurology, 2017

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 2014

24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf

Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.

Eckle VS et al.

The Journal of Physiology, 2014

New variants in the CACNA1H gene identified in childhood absence epilepsy.

Liang J et al.

Neuroscience Letters, 2006

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

Association between genetic variation of CACNA1H and childhood absence epilepsy.

Chen Y et al.

Annals of Neurology, 2003

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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."