Associated Papers
Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits.
Niu J et al.
Brain : a Journal of Neurology, 2026
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.
Kurganov E et al.
Science Translational Medicine, 2025
CACNA1A Genetic Variants and Their Potential Involvement in Migraine Pathogenesis.
Szymanowicz O et al.
International Journal of Molecular Sciences, 2025
A Review of the CACNA Gene Family: Its Role in Neurological Disorders.
Szymanowicz O et al.
Diseases (basel, Switzerland), 2024
Chronic pregabalin treatment protects against spreading depolarization and alters hippocampal synaptic characteristics in a model of familial hemiplegic migraine-type 1.
Cain SM et al.
Molecular Brain, 2023
Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations.
Gosalia H et al.
International Journal of Molecular Sciences, 2023
Functional Characterization of Four Known Cav2.1 Variants Associated with Neurodevelopmental Disorders.
Folacci M et al.
Membranes, 2023
Genetics of migraine: Delineation of contemporary understanding of the genetic underpinning of migraine.
de Boer I et al.
Handbook of Clinical Neurology, 2023
CaV2.1 channel mutations causing familial hemiplegic migraine type 1 increase the susceptibility for cortical spreading depolarizations and seizures and worsen outcome after experimental traumatic brain injury.
Terpolilli NA et al.
Elife, 2022
Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.
Gotra P et al.
Molecular Neurobiology, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Migraine: Calcium Channels and Glia.
Kowalska M et al.
International Journal of Molecular Sciences, 2021
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
Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions.
Duque KR et al.
Cerebellum (london, England), 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
Rare CACNA1A mutations leading to congenital ataxia.
Izquierdo-Serra M et al.
Pflugers Archiv : European Journal of Physiology, 2020
Familial "Diplegic" Migraine - Description of a Family With a Novel CACNA1A Mutation.
Sprouse Blum AS et al.
Headache, 2020
Basal astrocyte and microglia activation in the central nervous system of Familial Hemiplegic Migraine Type I mice.
Magni G et al.
Cephalalgia : an International Journal of Headache, 2019
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Jiang X et al.
Epilepsia, 2019
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
Advances in genetics of migraine.
Sutherland HG et al.
The Journal of Headache and Pain, 2019
Mouse Models of Familial Hemiplegic Migraine for Studying Migraine Pathophysiology.
Dehghani A et al.
Current Neuropharmacology, 2019
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2.
Tara E et al.
Disease Models & Mechanisms, 2018
Drosophila CaV2 channels harboring human migraine mutations cause synapse hyperexcitability that can be suppressed by inhibition of a Ca2+ store release pathway.
Brusich DJ et al.
Plos Genetics, 2018
Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.
Monteleone S et al.
Biophysical Journal, 2017
Inhibition of the P2X7-PANX1 complex suppresses spreading depolarization and neuroinflammation.
Chen SP et al.
Brain : a Journal of Neurology, 2017
Hyperpolarization-activated current Ih in mouse trigeminal sensory neurons in a transgenic mouse model of familial hemiplegic migraine type-1.
Eroli F et al.
Neuroscience, 2017
Precision physiology and rescue of brain ion channel disorders.
Noebels J
The Journal of General Physiology, 2017
Cortical Spreading Depression Causes Unique Dysregulation of Inflammatory Pathways in a Transgenic Mouse Model of Migraine.
Eising E et al.
Molecular Neurobiology, 2017
Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.
Sutherland HG et al.
Headache, 2017
The genetic relationship between epilepsy and hemiplegic migraine.
Huang Y et al.
Neuropsychiatric Disease and Treatment, 2017
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.
Pradotto L et al.
Journal of the Neurological Sciences, 2016
Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death.
Aiba I et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Activity-dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1.
Khennouf L et al.
Annals of Neurology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease.
Friedrich T et al.
Frontiers in Physiology, 2016
Differential cerebellar GABAA receptor expression in mice with mutations in CaV2.1 (P/Q-type) calcium channels.
Kaja S et al.
Neuroscience, 2015
Large-scale mass spectrometry imaging investigation of consequences of cortical spreading depression in a transgenic mouse model of migraine.
Carreira RJ et al.
Journal of the American Society for Mass Spectrometry, 2015
Migraine mutations impair hippocampal learning despite enhanced long-term potentiation.
Dilekoz E et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
Familial hemiplegic migraine type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice.
Inchauspe CG et al.
Hearing Research, 2015
Migraine pathophysiology: lessons from mouse models and human genetics.
Ferrari MD et al.
The Lancet. Neurology, 2015
Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans.
Vecchia D et al.
Frontiers in Cellular Neuroscience, 2015
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
Bahamonde MI et al.
Plos One, 2015
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