Research By Disease – CheckOrphan

Disease: Episodic ataxia with nystagmus

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications
TRPM7 as a Candidate Gene for Vestibular Migraine
36-year-old Male with Syncope
A - 49 Neuropsychological and Clinical Features of Ataxia Due to CACNA1A (P.1661H) Mutation: a Case Study
A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia
A neurodevelopmental disorder caused by a dysfunctional CACNA1A allele
A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis
A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352(*))] Causing Episodic Ataxia Type 2
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2
A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine
A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy
A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine
A step forward for stress-induced ataxia
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2
Altered brain state during episodic dystonia in tottering mice decouples primary motor cortex from limb kinematics
Aminopiridines in the treatment of multiple sclerosis and other neurological disorders
Aminopyridines and Acetyl-DL-leucine: New Therapies in Cerebellar Disorders
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia
CACNA1A variant associated with generalized dystonia
Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A
Case Report: A Novel CACNA1A Mutation Caused Flunarizine-Responsive Type 2 Episodic Ataxia and Hemiplegic Migraine With Abnormal MRI of Cerebral White Matter
Cerebral Superficial Siderosis : Etiology, Neuroradiological Features and Clinical Findings
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, a mimicker of malignancy: a case report and review of the literature
Clinical and genetic characterization of CACNA1A-related disease
Clinical characteristics of patients with dizziness/vertigo showing a dissociation between caloric and video head impulse test results
Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2
Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2
Cognitive deficits in episodic ataxia type 2 mouse models
Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology
Corrective and preventive actions (CAPAs) in eye bank
Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation
Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective
Differentiating episodic ataxia type 2 from migraine: a case report
Diversity of CACNA1A-related disorders
Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation
Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports
Electrophysiological Studies Support Utility of Positive Modulators of SK Channels for the Treatment of Spinocerebellar Ataxia Type 2
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Epidemiology of Cerebellar Diseases and Therapeutic Approaches
Epilepsy and episodic ataxia type 2: family study and review of the literature
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia
Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients
Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria
Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6
Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism
Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9
Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in 13 children
Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant
Impact of 4-aminopyridine on vestibulo-ocular reflex performance
Inherited episodic ataxia type 2 in pregnancy: A case report
Instrumented gait analysis defines the walking signature of CACNA1A disorders
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
Mechanism of stress-induced attacks in an episodic neurologic disorder
Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview
New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy
Novel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia
Novel mutation in exon11 of PRKCG (SCA14): A case report
Paraneoplastic Progressive Downbeat Nystagmus, Ataxia and Sensorineural Hearing Loss due to the ANTI-Kelch-11 Protein Antibody
Paroxysmal movement disorders - practical update on diagnosis and management
Pharmacotherapy of cerebellar and vestibular disorders
Pharmacotherapy of Vestibular Disorders, Nystagmus and Cerebellar Disorders
Phenotypes, genotypes, and the management of paroxysmal movement disorders
Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene
Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing
Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2
The complexities of CACNA1A in clinical neurogenetics
The efficacy of combining topiramate and 4-aminopyridine to reduce relapses and interictal progression in two cases of episodic ataxia type 2
The electrophysiological footprint of CACNA1A disorders
The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics
The neurological update: therapies for cerebellar ataxias in 2020
The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature
Therapy of episodic ataxias: case report and review of the literature
Transient Neurological Symptoms Preceding Cerebellar Ataxia with Glutamic Acid Decarboxylase Antibodies
Treatable Ataxias: How to Find the Needle in the Haystack?
Treatment of dizziness: an interdisciplinary update
Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
Update on diagnosis and differential diagnosis of vestibular migraine
Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2
Vertical Saccadic Slowing in Episodic Ataxia Type 2
Vestibular impairments in episodic ataxia type 2
Vestibular Migraine: How to Sort it Out and What to Do About it
Video head impulse testing in patients with isolated (hemi)nodular infarction
Wernicke Encephalopathy
Wernicke Encephalopathy (Nursing)
What Is Behind Cerebellar Vertigo and Dizziness?
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity
Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies