Associated Papers
Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.
Hommersom MP et al.
Stem Cell Reports, 2026
Shared genetics in epilepsy and migraine: A scoping review.
Sahu P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Altered Gating of Two CaV2.1 Variants Linked to Neurodevelopmental Disorders With Epilepsy and Migraine.
Meza U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.
Gandini MA et al.
Molecular Brain, 2021
Rare CACNA1A mutations leading to congenital ataxia.
Izquierdo-Serra M et al.
Pflugers Archiv : European Journal of Physiology, 2020
Gain-of-function mutations in the UNC-2/CaV2α channel lead to excitation-dominant synaptic transmission in Caenorhabditis elegans.
Huang YC et al.
Elife, 2019
Mechanism underlying unaltered cortical inhibitory synaptic transmission in contrast with enhanced excitatory transmission in CaV2.1 knockin migraine mice.
Vecchia D et al.
Neurobiology of Disease, 2014
Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models.
Uchitel OD et al.
Biophysical Reviews, 2014
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels.
Garza-López E et al.
Cephalalgia : an International Journal of Headache, 2013
Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels.
Garza-López E et al.
Biochimica Et Biophysica Acta, 2012
Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons.
Tao J et al.
Journal of Neurophysiology, 2012
Trigeminal ganglion neuron subtype-specific alterations of Ca(V)2.1 calcium current and excitability in a Cacna1a mouse model of migraine.
Fioretti B et al.
The Journal of Physiology, 2011
Contribution of calcium-dependent facilitation to synaptic plasticity revealed by migraine mutations in the P/Q-type calcium channel.
Adams PJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
CaV2.1 channelopathies.
Pietrobon D
Pflugers Archiv : European Journal of Physiology, 2010
Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine.
Pietrobon D
The Journal of Physiology, 2010
The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.
Serra SA et al.
Pflugers Archiv : European Journal of Physiology, 2009
The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation.
Weiss N et al.
Pflugers Archiv : European Journal of Physiology, 2008
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
de Vries B et al.
Cephalalgia : an International Journal of Headache, 2008
Human disorders caused by the disruption of the regulation of excitatory neurotransmission.
Steinlein OK
Results and Problems in Cell Differentiation, 2008
[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
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 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
Disease causing mutations of calcium channels.
Lorenzon NM et al.
Channels (austin, Tex.), 0