Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

(2011) M. Strupp et al.   NEUROLOGY

The dynamic regulation of cortical excitability is altered in episodic ataxia type 2

(2010) Rick C. Helmich et al.   BRAIN

Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine

(2010) Taku Omata et al.   BRAIN & DEVELOPMENT

Autoimmune mediated neuromuscular junction defects

(2010) Maria Elena Farrugia et al.   CURRENT OPINION IN NEUROLOGY

Autoimmune Channelopathies: Well-Established and Emerging Immunotherapy-Responsive Diseases of the Peripheral and Central Nervous Systems

(2010) Angela Vincent   JOURNAL OF CLINICAL IMMUNOLOGY

Myasthenia and related disorders of the neuromuscular junction

(2010) J. Spillane et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

(2010) R. Romaniello et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

(2010) Sanjeev Rajakulendran et al.   JOURNAL OF PHYSIOLOGY-LONDON

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

(2010) Elide Mantuano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2010) Nico Melzer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels

(2010) Jörg Striessnig et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

(2009) Boukje de Vries et al.   ARCHIVES OF NEUROLOGY

N Terminus Is Key to the Dominant Negative Suppression of CaV2 Calcium Channels

(2009) Karen M. Page et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

(2009) R W Labrum et al.   JOURNAL OF MEDICAL GENETICS

Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6

(2009) Patrick Yu-Wai-Man et al.   JOURNAL OF NEUROLOGY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

(2009) J. Liu et al.   JOURNAL OF NEUROSCIENCE

Identification of CACNA1A large deletions in four patients with episodic ataxia

(2009) Florence Riant et al.   NEUROGENETICS

Vertigo as a migraine trigger

(2009) L. Murdin et al.   NEUROLOGY

Role of voltage-gated calcium channels in epilepsy

(2009) Gerald W. Zamponi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

CaV1.2 channelopathies: from arrhythmias to autism, bipolar disorder, and immunodeficiency

(2009) Ping Liao et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Large CACNA1A Deletion in a Family With Episodic Ataxia Type 2

(2008) Florence Riant et al.   ARCHIVES OF NEUROLOGY

Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity

(2008) T. D. Graves et al.   JOURNAL OF NEUROLOGY

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family

(2008) A. Roubertie et al.   JOURNAL OF NEUROLOGY

A Destructive Interaction Mechanism Accounts for Dominant-Negative Effects of Misfolded Mutants of Voltage-Gated Calcium Channels

(2008) A. Mezghrani et al.   JOURNAL OF NEUROSCIENCE

Newly characterised 5′ and 3′ regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

(2008) Liana Veneziano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Navigating the channels and beyond: unravelling the genetics of the epilepsies

(2008) Ingo Helbig et al.   LANCET NEUROLOGY

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

(2008) Tracey D. Graves et al.   NEUROBIOLOGY OF DISEASE

Calcium Signaling in Dendrites and Spines: Practical and Functional Considerations

(2008) Michael J. Higley et al.   NEURON

Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies

(2008) T. Miki et al.   NEUROSCIENCE

Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels

(2008) K. Watase et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of neuronal T-type calcium channels

(2008) Mircea C. Iftinca et al.   TRENDS IN PHARMACOLOGICAL SCIENCES