Intellectual disability and structural defects of the CaV2.1 channel in episodic ataxia type 2: correlation using an AI prediction model.

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.

Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy.

Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series.

Efficacy and safety of 4-aminopyridine in episodic ataxia type 2: a case series.

Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia.

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.

A positively charged residue at the Kv1.1 T1 interface is critical for voltage-dependent activation and gating kinetics.

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.

Corrective and preventive actions (CAPAs) in eye bank.

Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.

An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.

Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.

Treatable Ataxias: How to Find the Needle in the Haystack?

Clinical characteristics of patients with dizziness/vertigo showing a dissociation between caloric and video head impulse test results.

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.

Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2.

[Diversity of CACNA1A-related disorders].

Update on diagnosis and differential diagnosis of vestibular migraine.

Further delineation of phenotypic spectrum of SCN2A-related disorder.

Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial.

Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism.

CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

Epilepsy and episodic ataxia type 2: family study and review of the literature.

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.

Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.

Cognitive impairment in children with CACNA1A mutations.

Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.

What Is Behind Cerebellar Vertigo and Dizziness?

New CACNA1A deletions are associated to migraine phenotypes.

Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases.

Whole-exome sequencing for variant discovery in blepharospasm.

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia [RETIRED]: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.

Treatment of dizziness: an interdisciplinary update.

Epidemiology of Cerebellar Diseases and Therapeutic Approaches.

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Aminopyridines for the treatment of neurologic disorders.

Late-onset episodic ataxia associated with SLC1A3 mutation.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

[Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case].

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

[Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members].

The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?

Acetazolamide in vestibular migraine prophylaxis: a retrospective study.

[Peripheral, central and functional vertigo syndromes].

Neuropathology in a case of episodic ataxia type 4.

Abnormal excitability and episodic low-frequency oscillations in the cerebral cortex of the tottering mouse.

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.