Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Brain : a journal of neurology

• Publication date

  2014-04-01

• Fields of study

  Medicine, Psychology

• Identifiers
  DOI 10.1093/brain/awu012PMID 24578548PMCID PMC3959554
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1

  2013cited by this paper
• Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

  2010cited by this paper
• Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

  2010cited by this paper
• A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction

  2009cited by this paper
• Equivalence of electronic and paper-and-pencil administration of patient-reported outcome measures: a meta-analytic review.

  2008cited by this paper
• A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.

  2008cited by this paper
• Health related quality of life measures in Friedreich Ataxia.

  2008cited by this paper
• Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea

  2008cited by this paper
• Health‐related quality of life in sporadic adult‐onset ataxia

  2007cited by this paper
• Primary episodic ataxias: diagnosis, pathogenesis and treatment.

  2007cited by this paper
• Episodic ataxia type 1: A neuronal potassium channelopathy

  2007cited by this paper
• Health-related quality of life in sporadic adult-onset ataxia.

  2007cited by this paper
• Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

  2006cited by this paper
• Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene

  2006cited by this paper
• Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.

  2004cited by this paper
• Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.

  2004cited by this paper
• Electronic diaries and questionnaires: Designing user interfaces that are easy for all patients to use

  2004cited by this paper
• Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

  2000cited by this paper
• A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

  1999cited by this paper
• Three novel KCNA1 mutations in episodic ataxia type I families

  1998cited by this paper
• Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel

  1998cited by this paper
• Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.

  1995cited by this paper
• Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain

  1994cited by this paper
• A gene for episodic ataxia/myokymia maps to chromosome 12p13.

  1994cited by this paper
• Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

  1994cited by this paper
• Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons

  1993cited by this paper
• The MOS 36-ltem Short-Form Health Survey (SF-36): I. Conceptual Framework and Item Selection

  1992cited by this paper
• The MOS 36-Item Short-Form Health Survey (SF-36)

  1992cited by this paper
• Familial paroxysmal kinesigenic ataxia and continuous myokymia.

  1990cited by this paper
• Hereditary myokymia and periodic ataxia.

  1975cited by this paper

• Paroxysmal Movement Disorders.

  2025cites this paper
• Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort.

  2025cites this paper
• Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

  2025cites this paper
• Episodische, attackenweise Erkrankungen in der Neurologie

  2025cites this paper
• Episodische, attackenweise Erkrankungen in der Neurologie

  2024cites this paper
• The episodic ataxias.

  2024cites this paper
• Potassium channel‐related epilepsy: Pathogenesis and clinical features

  2024cites this paper
• Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

  2023cites this paper
• Ataxias: Hereditary, Acquired, and Reversible Etiologies

  2023cites this paper
• Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

  2023cites this paper
• Paroxysmal movement disorders: Paroxysmal dyskinesia and episodic ataxia.

  2023cites this paper
• Metabolic aspects of genetic ion channel epilepsies

  2023cites this paper
• Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)

  2023cites this paper
• Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia

  2023cites this paper
• kcna1a mutant zebrafish model episodic ataxia type 1 (EA1) with epilepsy and show response to first‐line therapy carbamazepine

  2023cites this paper
• Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy

  2023influential citation
• Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria

  2022cites this paper
• Muscle cramps and contractures: causes and treatment

  2022cites this paper
• kcna1a mutant zebrafish as a model of episodic ataxia type 1 and epilepsy

  2022cites this paper
• Episodic Ataxia Type 1: Natural History and Effect on Quality of Life

  2022influential citation
• Scrub Typhus Associated with Central and Peripheral Nervous System Involvement: A Rare Diagnostic Entity

  2022cites this paper
• Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion

  2022cites this paper
• Clinical Scales of Cerebellar Ataxias

  2021cites this paper
• Functional Movement Disorders During the COVID‐19 Pandemic: Back to Charcot's Era at the Salpêtrière

  2021cites this paper
• Hereditary kidney diseases associated with hypomagnesemia

  2021cites this paper
• Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation

  2021cites this paper
• A nationwide survey of episodic ataxia in Japan

  2021cites this paper
• Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature

  2021cites this paper
• Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy

  2021cites this paper
• Paroxysmal Movement Disorders

  2021cites this paper
• Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm

  2021cites this paper
• Demystifying the spontaneous phenomena of motor hyperexcitability.

  2021cites this paper
• Adenosine-to-inosine RNA editing in neurological development and disease

  2021influential citation
• A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls

  2021cites this paper
• Paroxysmal Genetic Movement Disorders and Epilepsy

  2021cites this paper
• Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

  2021cites this paper
• Movement Disorders in Genetic Pediatric Ataxias

  2020cites this paper
• Episodic Ataxias

  2020cites this paper
• Treatable Movement Disorders of Infancy and Early Childhood

  2020cites this paper
• Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

  2020influential citation
• Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

  2020influential citation
• Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

  2020cites this paper
• Stiff-Person Syndrome and Related Disorders: A Comprehensive, Practical Guide

  2020cites this paper
• A forward genetic screen identifies Dolk as a regulator of startle magnitude through the potassium channel subunit Kv1.1

  2020cites this paper
• Cost of Cerebellar Ataxia in Hong Kong: A Retrospective Cost-of-Illness Analysis

  2020cites this paper
• Kinesigenic Triggers in Episodic Ataxia Type 1

  2020cites this paper
• Episodic Ataxias: Faux or Real?

  2020influential citation
• Common Childhood Epilepsy Mimics

  2020cites this paper
• Peripheral Nerve Hyperexcitability Syndromes

  2020cites this paper
• Paroxysmal Movement Disorders: Recent Advances

  2019cites this paper
• Paroxysmal movement disorders: Recent advances and proposal of a classification system.

  2019cites this paper
• Paroxysmal movement disorders – practical update on diagnosis and management

  2019influential citation
• Peripheral nerve hyperexcitability.

  2019cites this paper
• Learning Physiology From Inherited Kidney Disorders.

  2019cites this paper
• Epidemiology of inherited cerebellar ataxias and challenges in clinical research

  2018cites this paper
• Clinical Distinction of Cerebral Ischemia and Triaging of Patients in the Emergency Department: Mimics, Wake-ups, Late Strokes, and Chameleons.

  2018cites this paper
• Spinocerebellar ataxia: an update

  2018cites this paper
• Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study

  2018cites this paper
• Can pre-screening vestibulocerebellar involvement followed by targeted training improve the outcomes of balance in cerebellar ataxia?

  2018cites this paper
• Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

  2018cites this paper
• Scales for the clinical evaluation of cerebellar disorders.

  2018cites this paper
• Episodic ataxias.

  2018cites this paper
• Movement disorders Paroxysmal movement disorders : An update

  2018cites this paper
• The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics

  2018cites this paper
• A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia

  2018cites this paper
• Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

  2018cites this paper
• Calcium Channels, Synaptic Plasticity, and Neuropsychiatric Disease.

  2018cites this paper
• Episodic ataxias.

  2018cites this paper
• Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes

  2018cites this paper
• A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

  2017cites this paper
• Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing

  2017cites this paper
• UNIVERSITY OF CALIFORNIA Los Angeles Functional Characterization of EAAT1 Mutations A thesis submitted in partial satisfaction of the requirements for the degree Master of Science in Physiological Sciences by

  2017cites this paper
• Peripheral Nerve Hyperexcitability Syndromes

  2017cites this paper
• A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions

  2017cites this paper
• Presynaptic action potential modulation in a neurological channelopathy

  2017cites this paper
• Rare neurological channelopathies — networks to study patients, pathogenesis and treatment

  2016cites this paper
• Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects

  2016cites this paper
• Lack of Organization or Coordination of Voluntary Muscle Activity

  2016cites this paper
• Genetic causes of hypomagnesemia, a clinical overview

  2016cites this paper
• The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels

  2016cites this paper
• Episodic Ataxias: Clinical and Genetic Features

  2016cites this paper
• Management of the ataxias : towards best clinical practice

  2016cites this paper
• A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia

  2016cites this paper
• Dominant‐negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

  2016cites this paper
• Paroxysmal movement disorders: An update.

  2016cites this paper
• Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

  2015influential citation
• Episodic Ataxia Type 1

  2015cites this paper
• New insights into the pathogenesis and therapeutics of episodic ataxia type 1

  2015cites this paper
• Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

  2015cites this paper
• Genetic neurological channelopathies: molecular genetics and clinical phenotypes

  2015cites this paper
• Therapies for Ataxias

  2014cites this paper
• The Clinical Spectrum of Autosomal‐Dominant Episodic Ataxias

  2014cites this paper