Disease: Episodic Ataxia syndrome
- <em>CACNA1A</em> Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes
- A Case Report of ROHHAD Syndrome in an 8-year-old Iranian Boy
- A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome
- A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations
- A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder
- Absence of diffusion-weighted imaging abnormalities in a patient with neuronal intranuclear inclusion disease
- Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report
- Aminopiridines in the treatment of multiple sclerosis and other neurological disorders
- An interaction between PRRT2 and Na<sup>+</sup>/K<sup>+</sup> ATPase contributes to the control of neuronal excitability
- Anti-CASPR2 Antibody-Associated Syndrome Presenting With Episodic Ataxia
- Anti-kelchlike protein 11 antibody-associated encephalitis: Two case reports and review of the literature
- ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum
- Benign paroxysmal torticollis
- Benign paroxysmal torticollis: phenotype, natural history, and quality of life
- Brain dysfunction and thyroid antibodies: autoimmune diagnosis and misdiagnosis
- BRAT1 Mutation Retrospective Diagnosis: A Case Report
- Breast cancer-associated opsoclonus-myoclonus syndrome: a case report
- CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
- Can early-onset acquired demyelinating syndrome (ADS) hide pediatric Behcet's disease? A case report
- Case Report: Hindlimb Ataxia Concurrent With Seizures by Presumed Osmotic Demyelination Syndrome in a Dog
- Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, a mimicker of malignancy: a case report and review of the literature
- Chronic oxcarbazepine intoxication in a patient with primary antiphospholipid syndrome on maintenance haemodialysis
- Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
- Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia
- Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein
- Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
- Clinical relapse of immune-mediated thrombotic thrombocytopenic purpura following COVID-19 vaccination
- Clinical signs, MRI findings and outcome in dogs with peripheral vestibular disease: a retrospective study
- Clinical Therapeutic Management of Human Mitochondrial Disorders
- Coats Plus syndrome: a diagnostic and therapeutic challenge in pediatric gastrointestinal hemorrhage
- Concomitant occurrence of Wernicke's encephalopathy and sarcopenia due to vitamin D depletion in patients with alcohol use disorder: a case report
- Conformational equilibrium shift underlies altered K<sup>+</sup> channel gating as revealed by NMR
- Distinct movement disorders in contactin-associated-protein-like-2 antibody-associated autoimmune encephalitis
- Dizziness and syncope after subclavian steal: A case report of a rarely symptomatic, common vascular disorder
- Eagle Syndrome: A Rare Cause of Stroke in a Young Patient
- Early Identification of Alcohol Use Disorder Patients at Risk of Developing Korsakoff's Syndrome
- Early-onset eyelid stereotypies are a frequent and distinctive feature in Dravet syndrome
- Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany
- Emphasis on the Optimal Functional Recovery Through a Structured Inpatient Rehabilitation Program Along With a Home Exercise Regime in an Individual With Miller-Fisher Syndrome: A Case Report
- Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
- Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene
- Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
- Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)
- Fourth ventricle tumors in children: complications and influence of surgical approach
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
- Genetic Links to Episodic Movement Disorders: Current Insights
- Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia
- Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts - A Case Report
- Laser interstitial thermal therapy in pediatric cerebellar epilepsy
- Looks Like Neurosyphilis, Feels Like Guillain-Barre: At the Confluence of Infection and Immunology
- Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids
- MELAS syndrome: an acute stroke-like episode complicated by renal tubular acidosis
- MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies
- Migraine Headache in Childhood
- Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels
- Mitochondrial encephalomyopathy
- Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation
- Mitochondrial Retinopathy
- Natural history of non-polyglutamine CACNA1A disease in Austria
- Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report
- Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous <em>Kv1.1 N255D</em> mutation with normal serum magnesium levels
- Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome
- Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother
- Panhypopituitarism as the first sign of paraneoplastic limbic encephalitis in a patient with cured testicular cancer: a case report
- Paraneoplastic Progressive Downbeat Nystagmus, Ataxia and Sensorineural Hearing Loss due to the ANTI-Kelch-11 Protein Antibody
- Paroxysmal Autonomic Instability with Dystonia after Severe Traumatic Brain Injury
- Paroxysmal Genetic Movement Disorders and Epilepsy
- Paroxysmal Hypothermia With Prominent Parkinsonian Features After Suprachiasmatic Tumor Resection
- Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids
- Pearls & Oy-sters: SCA21 Due to <em>TMEM240</em> Variation Presenting as Myoclonus Dystonia Syndrome
- Pharmacotherapy of cerebellar and vestibular disorders
- Phenotypic and genetic aspects of hereditary ataxia in dogs
- Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
- Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
- Primary Sjögren's Syndrome Presenting as Recurrent Ischemic Strokes
- Prolonged neurologic deficits with brain MRI changes following ECT in an adolescent with a CACNA1a-related disorder; a case report
- Rare CACNA1A mutations leading to congenital ataxia
- Recurrent Miller Fisher Syndrome
- Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report
- Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
- Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report
- Stiff Person Syndrome and Gluten Sensitivity
- Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA)
- Temporal Cognitive and Brain Changes in Korsakoff Syndrome
- The complexities of CACNA1A in clinical neurogenetics
- The deficiency of myelin in the mutant taiep rat induces a differential immune response related to protection from the human parasite Trichinella spiralis
- The episodic ataxias
- The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na<sup>+</sup> channels
- Transient Neurological Symptoms Preceding Cerebellar Ataxia with Glutamic Acid Decarboxylase Antibodies
- Treatable Ataxias: How to Find the Needle in the Haystack?
- Treatment of dental caries in a patient with Joubert syndrome without the use of sedatives: A case study
- Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
- Use of perampanel in children with refractory epilepsy of genetic aetiology
- Video head impulse testing in patients with isolated (hemi)nodular infarction
- Wernicke Encephalopathy
- Wernicke Encephalopathy (Nursing)
- Wernicke-Korsakoff syndrome associated with mtDNA disease
- Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia