Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.R195K
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CACNA1A

NM_001127222.2:p.R195K

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.

Tang X et al.

European Journal of Human Genetics : Ejhg, 2024

38553610 (PubMed )
Supplement: 41431_2024_1594_MOESM1_ESM.docx

Migraine: Calcium Channels and Glia.

Kowalska M et al.

International Journal of Molecular Sciences, 2021

Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

Striessnig J

Frontiers in Synaptic Neuroscience, 2021

Familial "Diplegic" Migraine - Description of a Family With a Novel CACNA1A Mutation.

Sprouse Blum AS et al.

Headache, 2020

Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies.

Tyagi S et al.

Frontiers in Molecular Neuroscience, 2019

An Improved Method for Modeling Voltage-Gated Ion Channels at Atomic Accuracy Applied to Human Cav Channels.

Martinez-Ortiz W et al.

Cell Reports, 2018

29719253 (PubMed )
Supplement: NIHMS965983-supplement-2.pdf

Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.

Monteleone S et al.

Biophysical Journal, 2017

28978442 (PubMed )
Supplement: mmc1.pdf

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

CaV2.1 channelopathies.

Pietrobon D

Pflugers Archiv : European Journal of Physiology, 2010

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

Stam AH et al.

Clinical Genetics, 2008

Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.

Cuenca-León E et al.

Cephalalgia : an International Journal of Headache, 2008

Calcium channels, neuromuscular synaptic transmission and neurological diseases.

Urbano FJ et al.

Journal of Neuroimmunology, 2008

Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.

Xie G et al.

Genes, Brain, and Behavior, 2007

[Role of P/Q calcium channel in familial hemiplegic migraine].

Weiss N et al.

Medecine Sciences : M/s, 2007

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ et al.

Sub-cellular Biochemistry, 2007

Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.

McKeown L et al.

Acta Pharmacologica Sinica, 2006

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

Tonelli A et al.

Journal of the Neurological Sciences, 2006

Migraine genetics: an update.

Haan J et al.

Current Pain and Headache Reports, 2005

Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.

Müllner C et al.

The Journal of Biological Chemistry, 2004

Deciphering migraine mechanisms: clues from familial hemiplegic migraine genotypes.

Moskowitz MA et al.

Annals of Neurology, 2004

The molecular genetics of migraine.

Wessman M et al.

Annals of Medicine, 2004

Pseudomigraine with lymphocytic pleocytosis: a calcium channelopathy? Clinical description of 10 cases and genetic analysis of the familial hemiplegic migraine gene CACNA1A.

Chapman KM et al.

Headache, 2003

Is the CACNA1A gene involved in familial migraine with aura?

Brugnoni R et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2002

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

Ducros A et al.

The New England Journal of Medicine, 2001

Genetic biomarkers for migraine.

De Vries B et al.

Headache, 0

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