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
Shared genetics in epilepsy and migraine: A scoping review.
Sahu P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.
Kurganov E et al.
Science Translational Medicine, 2025
Migraine in monogenic disorders: Shedding light on new therapeutic targets.
Mascarella D et al.
Cephalalgia : an International Journal of Headache, 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
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
CACNA1A Genetic Variants and Their Potential Involvement in Migraine Pathogenesis.
Szymanowicz O et al.
International Journal of Molecular Sciences, 2025
Phenotypic variability in cases with CACNA1A mutation.
Bozkaya-Yilmaz S et al.
European Journal of Pediatrics, 2025
Inactivation of CaV1 and CaV2 channels.
Limpitikul WB et al.
The Journal of General Physiology, 2025
A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical Records.
Schaare D et al.
Neurology. Genetics, 2025
Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk.
Pelizzari S et al.
Frontiers in Neurology, 2025
A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Cav2.1 P/Q-type channel gating.
Sack AS et al.
Molecular Brain, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Natural history of non-polyglutamine CACNA1A disease in Austria.
Indelicato E et al.
Journal of Neurology, 2024
Treatment of CACNA1A Encephalopathy and Cerebral Edema with Magnesium and Dexamethasone.
Turner C et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
CAG repeat-selective compounds reduce abundance of expanded CAG RNAs in patient cell and murine models of SCAs.
Shorrock HK et al.
Biorxiv : the Preprint Server for Biology, 2024
A Longitudinal Exploration of CACNA1A -related Hemiplegic Migraine in Children.
Schaare D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.
Schaare D et al.
Genes, 2023
CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.
Indelicato E et al.
Handbook of Experimental Pharmacology, 2023
The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.
Kessi M et al.
Frontiers in Molecular Neuroscience, 2023
Genetics of migraine: Delineation of contemporary understanding of the genetic underpinning of migraine.
de Boer I et al.
Handbook of Clinical Neurology, 2023
Child Neurology: Hemiconvulsion-Hemiplegia-Epilepsy Syndrome in the Setting of COVID-19 Infection and Multisystem Inflammatory Syndrome.
Gong P et al.
Neurology, 2022
Electrophysiological Studies Support Utility of Positive Modulators of SK Channels for the Treatment of Spinocerebellar Ataxia Type 2.
Egorova PA et al.
Cerebellum (london, England), 2022
Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.
Grosso BJ et al.
Scientific Reports, 2022
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
Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.
Parissis D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
Niu X et al.
Developmental Medicine and Child Neurology, 2022
Hyperexcitable superior colliculus and fatal brainstem spreading depolarization in a model of Sudden Unexpected Death in Epilepsy.
Cain SM et al.
Brain Communications, 2022
Stabilization of negative activation voltages of Cav1.3 L-Type Ca2+-channels by alternative splicing.
Hofer NT et al.
Channels (austin, Tex.), 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Martínez-Monseny AF et al.
International Journal of Molecular Sciences, 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
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference.
Takayama J et al.
Nature Communications, 2021
Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies.
Trollmann R
Frontiers in Neurology, 2021
From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing.
Indelicato E et al.
Frontiers in Neurology, 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
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Jaudon F et al.
Biomedicines, 2020