Scientific & Medical Journal Articles — CACNA1A Foundation

Scientific & Medical Journal Articles

Published research on CACNA1A & related conditions

1. CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options (2023)
2. Zebrafish as a Model System for the Study of Severe CaV 2.1 Channelopathies (2019)- READ SUMMARY
3. Clinical and genetic characterization of CACNA1A-related disease (2022)
4. From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing (2021)
5. The electrophysiological footprint of CACNA1A disorders (2021)
6. The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews (2023)
7. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms (2015)
8. The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews (2023)
9. CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability (2024) - READ SUMMARY
1. CACNA1A Haploinsufficiency Causes Cognitive Impairment, Autism and Epileptic Encephalopathy With Mild Cerebellar Symptoms (2015)
2. Clinical phenotypes of infantile onset CACNA1A-related disorder (2020)
3. Zebrafish as a Model System for the Study of Severe CaV 2.1 Channelopathies (2019)- READ SUMMARY
4. Cognitive impairment in children with CACNA1A mutations (2019)- READ SUMMARY
5. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially (2017)
6. Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Cav2.1 Responds to Verapamil | Stroke (2010)
7. CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings (2021)
8. From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing (2021)
9. Targeting the CACNA1A IRES as a treatment for spinocerebellar ataxia type 6 (2019)
10. Spinocerebellar Ataxia Type 6 - GeneReviews® - NCBI Bookshelf (2019)
11. A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias (2011)
12. Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial (2021)
13. Early‑Life Social Determinants of SCA6 Age at Onset, Severity, and Progression (2023)
14. N-Acetyl-leucine in progressive CACNA1A ataxia: A case series (2025)
1. CACNA1A Haploinsufficiency Causes Cognitive Impairment, Autism and Epileptic Encephalopathy With Mild Cerebellar Symptoms (2015)
1. Brain atrophy following hemiplegic migraine attacks (2017) - READ SUMMARY
2. 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 (2021)
3. Clinical phenotypes of infantile onset CACNA1A-related disorder (2020)
1. Cognitive impairment in children with CACNA1A mutations (2019) - READ SUMMARY
1. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms (2015)
2. The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews (2023)
3. 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 (2022)- READ SUMMARY
4. Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome (2019)
5. Brainstem spreading depolarization and cortical dynamics during fatal seizures in Cacna1a S218L mice (2019)
6. CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications (2022)
7. Genotype–phenotype correlation of CACNA1A variants in children with epilepsy - Niu - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library (2021)
8. Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective (2024)
1. Zebrafish as a Model System for the Study of Severe CaV 2.1 Channelopathies (2019)- READ SUMMARY
2. Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Cav2.1 Responds to Verapamil | Stroke (2010)
3. Cognitive impairment in children with CACNA1A mutations (2019)- READ SUMMARY
4. Brain atrophy following hemiplegic migraine attacks (2017)- READ SUMMARY
5. CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood (2008)
6. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel (2001)
7. 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 (2021)
8. Diagnostic and Therapeutic Aspects of Hemiplegic Migraine (2020)
9. 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 (2022)- READ SUMMARY
10. From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing (2021)
11. Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature (2023)
11. Familial Hemiplegic Migraine - GeneReviews® - NCBI Bookshelf (2021)
12. Diagnostic and therapeutic aspects of hemiplegic migraine | Journal of Neurology, Neurosurgery & Psychiatry (2020)
13. “Living with” CACNA1A-related hemiplegic migraine, a disease concept model (2024)
14. A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical Records
15. Chronic pregabalin treatment protects against spreading depolarization and alters hippocampal synaptic characteristics in a model of familial hemiplegic migraine-type 1 (2023) - READ SUMMARY
1. Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders (2020)
2. The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews (2023)
3. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially (2017)
4.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 (2021)
5. Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders (2021)
6. CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings (2021)
7. Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder (2022)
8. A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical Records (2025)
1. CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options (2023)
1. Eye movement disorders are an early manifestation of CACNA1A mutations in children. (2016)
2. Implications of cerebral/cortical visual impairment on life and learning: insights and strategies from lived experiences (2025)

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