Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Journal of Neurological Sciences

• Publication date

  2009-05-15

• Fields of study

  Medicine, Chemistry

• Identifiers
  DOI 10.1016/j.jns.2009.01.005PMID 19232643
• 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.

• Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

  2008cited by this paper
• Primary episodic ataxias: diagnosis, pathogenesis and treatment.

  2007cited by this paper
• A new episodic ataxia syndrome with linkage to chromosome 19q13.

  2007cited by this paper
• Voltage- and calcium-dependent inactivation in high voltage-gated Ca(2+) channels.

  2006cited by this paper
• CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics

  2005cited by this paper
• Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A

  2005cited by this paper
• Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

  2005cited by this paper
• Clinical spectrum of episodic ataxia type 2

  2004cited by this paper
• Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2

  2004cited by this paper
• Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension.

  2004cited by this paper
• Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

  2003cited by this paper
• Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

  2001cited by this paper
• Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?

  2001cited by this paper
• Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

  2000cited by this paper
• CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy

  2000cited by this paper
• The Journal of the Neurological Sciences

  1998cited by this paper
• Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.

  1998cited by this paper
• Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p

  1997cited by this paper
• Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

  1997cited by this paper
• Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

  1996influential reference
• Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.

  1996cited by this paper
• Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

  1981cited by this paper

• Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders

  2026cites this paper
• Misleading EEG in CACNA1A mutation: A case of late-onset episodic ataxia type 2.

  2025cites this paper
• Inactivation of CaV1 and CaV2 channels.

  2025cites this paper
• Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients

  2025cites this paper
• CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.

  2023cites this paper
• Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

  2022cites this paper
• The electrophysiological footprint of CACNA1A disorders

  2021cites this paper
• From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

  2021cites this paper
• Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2

  2020cites this paper
• Rare CACNA1A mutations leading to congenital ataxia

  2020cites this paper
• Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies

  2020cites this paper
• Dystonia genes and their biological pathways.

  2019cites this paper
• Episodic ataxias.

  2018cites this paper
• Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases

  2018cites this paper
• Epidemiology of inherited cerebellar ataxias and challenges in clinical research

  2018cites this paper
• Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

  2017cites this paper
• Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2.

  2017cites this paper
• Episodic Ataxias: Clinical and Genetic Features

  2016cites this paper
• Late-onset episodic ataxia associated with SLC1A3 mutation

  2016cites this paper
• CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

  2015cites this paper
• Dystonia and cerebellar degeneration in the leaner mouse mutant.

  2015cites this paper
• A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx

  2015cites this paper
• Mouse Models of Episodic Ataxia Type 2

  2015cites this paper
• Chapter 27 – Mouse Models of Dystonia

  2015cites this paper
• Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2

  2013cites this paper
• Limited regional cerebellar dysfunction induces focal dystonia in mice.

  2013cites this paper
• Neurochemistry and Neuropharmacology of the Cerebellar Ataxias

  2012cites this paper
• CaV2.1 voltage activated calcium channels and synaptic transmission in familial hemiplegic migraine pathogenesis.

  2012cites this paper
• Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2

  2011cites this paper
• Convergent mechanisms in etiologically-diverse dystonias

  2011cites this paper
• Fluctuating neuromuscular transmission defects and inverse acetazolamide response in episodic ataxia type 2 associated with the novel CaV2.1 single amino acid substitution R2090Q.

  2010cites this paper
• Neuronal voltage-gated calcium channels

  2010cites this paper
• CaV2.1 channelopathies

  2010cites this paper
• Current Opinion in Neurology. Current world literature.

  2010cites this paper
• Evidence-based guideline: The role of diffusion and perfusion MRI for the diagnosis of acute ischemic stroke

  2010cites this paper
• Therapeutics and Technology Assessment Subcommittee of the MRI for the diagnosis of acute ischemic stroke : Report of the Evidence-based guideline : The role of diffusion and perfusion

  2010cites this paper
• Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

  2010cites this paper
• Reduced expression of the Ca2+ transporter protein PMCA2 slows Ca2+ dynamics in mouse cerebellar Purkinje neurones and alters the precision of motor coordination

  2010cites this paper
• Evidence-based guideline: The role of diffusion and perfusion MRI for the diagnosis of acute ischemic stroke

  2010cites this paper
• NEURONAL VOLTAGE-GATED CALCIUM CHANNELS: BRIEF OVERVIEW OF THEIR FUNCTION AND CLINICAL IMPLICATIONS IN NEUROLOGY

  2010cites this paper