Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Archives of Neurology

• Publication date

  2005-02-01

• Fields of study

  Medicine, Psychology

• Identifiers
  DOI 10.1001/ARCHNEUR.62.2.314PMID 15710862
• 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 spectrum of episodic ataxia type 2

  2004cited by this paper
• Ca * + channels : diversity of form and function

  2003cited by this paper
• Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?

  2003cited by this paper
• Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

  2001cited by this paper
• Functional brain networks in DYT1 dystonia

  1998cited by this paper
• Single-unit activity of cerebellar nuclear cells in the awake genetically dystonic rat.

  1998cited by this paper
• Changes in perfusion pattern using ECD‐SPECT indicate frontal lobe and cerebellar involvement in exercise‐induced paroxysmal dystonia

  1998cited by this paper
• Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

  1996cited by this paper
• Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca Channel

  1996cited by this paper
• Ca2+ channels: diversity of form and function.

  1992cited by this paper
• Hereditary paroxysmal ataxia

  1978cited by this paper

• Voltage-gated calcium channels (CaV) in GtoPdb v.2025.3

  2025cites this paper
• Striatal cell-type–specific molecular signatures reveal potential therapeutic targets in a model of dystonia

  2025cites this paper
• Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort

  2024cites this paper
• Striatal cell-type–specific molecular signatures reveal therapeutic targets in a model of dystonia

  2024cites this paper
• Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia

  2024cites this paper
• Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report

  2024cites this paper
• CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.

  2023cites this paper
• Ataxies épisodiques

  2023cites this paper
• Atassie episodiche

  2023cites this paper
• Voltage-gated calcium channels (CaV) in GtoPdb v.2023.1

  2023cites this paper
• Altered brain state during episodic dystonia in tottering mice decouples primary motor cortex from limb kinematics

  2023cites this paper
• Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria

  2022cites this paper
• Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia

  2022influential citation
• Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

  2022cites this paper
• Voltage-gated calcium channels (CaV) in GtoPdb v.2021.3

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

  2021cites this paper
• Voltage-gated calcium channels in GtoPdb v.2021.2

  2021cites this paper
• Paroxysmal dyskinesias

  2021cites this paper
• Emerging and converging molecular mechanisms in dystonia

  2021cites this paper
• A case of novel CACNA1A mutation causing type 2 episodic ataxia

  2021cites this paper
• Voltage-gated calcium channels (version 2020.5) in the IUPHAR/BPS Guide to Pharmacology Database

  2020cites this paper
• Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

  2020cites this paper
• Ataxia

  2020cites this paper
• Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2

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

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

  2019cites this paper
• Voltage-gated calcium channels (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database

  2019cites this paper
• Tottering Mouse

  2019cites this paper
• Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

  2018cites this paper
• Whole‐exome sequencing for variant discovery in blepharospasm

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

  2018cites this paper
• Voltage-Dependent Calcium Channels, Calcium Binding Proteins, and Their Interaction in the Pathological Process of Epilepsy

  2018cites this paper
• Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2

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

  2017cites this paper
• Ataxies épisodiques

  2017cites this paper
• Peculiarities of Hemiplegic Migraine in Children

  2016cites this paper
• Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High‐Throughput Sequencing

  2016cites this paper
• Chapter 14 – Ataxia

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

  2016cites this paper
• Mouse Models of Episodic Ataxia Type 2

  2015cites this paper
• Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

  2015cites this paper
• Clinical and functional studies of autoimmune disorders of neuromuscular transmission

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

  2015cites this paper
• Behavioral characteristics associated with 19p13.2 microdeletions

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

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

  2015cites this paper
• The Clinical Spectrum of Autosomal‐Dominant Episodic Ataxias

  2014cites this paper
• Primary dystonias and genetic disorders with dystonia as clinical feature of the disease.

  2014cites this paper
• Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature

  2014cites this paper
• Dystonia and the cerebellum: a new field of interest in movement disorders?

  2013cites this paper
• Unilateral Pallidal Deep Brain Stimulation in a Patient with Dystonia Secondary to Episodic Ataxia Type 2

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

  2013cites this paper
• A novel CACNA1A mutation associated with adult‐onset, paroxysmal head tremor

  2013cites this paper
• Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS

  2012cites this paper
• Acetazolamide-Responsive Ataxia

  2012cites this paper
• Affezioni dell’encefaloAtassie episodiche

  2012cites this paper
• Ataxies épisodiques génétiques

  2011cites this paper
• [Hereditary episodic ataxia].

  2011cites this paper
• Chapter 21 – Ataxia: Pathophysiology and clinical syndromes

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

  2011cites this paper
• Neuronal voltage-gated calcium channels

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

  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
• Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation

  2010cites this paper
• Alcohol in essential tremor and other movement disorders

  2010cites this paper
• Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

  2010cites this paper
• A molecular-genetic study of Congenital Nystagmus.

  2009cites this paper
• Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

  2009cites this paper
• Episodische Ataxie Typ 2

  2009cites this paper
• Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo.

  2009influential citation
• Animal models for drug discovery in dystonia

  2008cites this paper
• A 44-year-old man with dizziness since the teens

  2008cites this paper
• Experimental therapeutics for dystonia

  2008cites this paper
• Paroxysmal dyskinesias in mice

  2008cites this paper
• Hereditary Episodic Ataxias

  2008cites this paper
• The basal ganglia and cerebellum interact in the expression of dystonic movement.

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

  2007cites this paper
• Episodic ataxia type 2

  2007cites this paper
• Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits.

  2007cites this paper
• The Enigma of Spinocerebellar Ataxia Type 6

  2006cites this paper
• Animal models of generalized dystonia

  2005cites this paper
• Assignment of genetic loci and variants predisposing to migraine with aura and episodic ataxia type 2

  2005cites this paper
• The role of the cerebellum in dystonia

  year unknowncites this paper