CaV2.1 channelopathies (Q33537218)

27 July 2017

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title

CaV2.1 channelopathies (English)

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27 July 2017

Daniela Pietrobon

1

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27 July 2017

publication date

4 March 2010

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27 July 2017

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27 July 2017

volume

460

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27 July 2017

issue

2

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27 July 2017

page(s)

375-393

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Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies

27 July 2017

cites work

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https://api.crossref.org/works/10.1007%2FS00424-010-0802-8

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0802-8

Clinical spectrum of episodic ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0802-8

Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0802-8

Alternative splicing generates a smaller assortment of CaV2.1 transcripts in cerebellar Purkinje cells than in the cerebellum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0802-8

Impact of the leaner P/Q-type Ca2+ channel mutation on excitatory synaptic transmission in cerebellar Purkinje cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0802-8

Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0802-8

The leaner P/Q-type calcium channel mutation renders cerebellar Purkinje neurons hyper-excitable and eliminates Ca2+-Na+ spike bursts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0802-8

Presynaptic N-type and P/Q-type Ca2+ channels mediating synaptic transmission at the calyx of Held of mice.

21 January 2018

1 reference

12 December 2020

Advances in the basic and clinical science of migraine

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12 December 2020

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

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12 December 2020

Developmental changes in calcium channel types mediating central synaptic transmission.

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12 December 2020

Bidirectional alterations in cerebellar synaptic transmission of tottering and rolling Ca2+ channel mutant mice

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12 December 2020

Pain sensitivity in mice lacking the Ca(v)2.1alpha1 subunit of P/Q-type Ca2+ channels

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12 December 2020

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition

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12 December 2020

Differential gating and recruitment of P/Q-, N-, and R-type Ca2+ channels in hippocampal mossy fiber boutons

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12 December 2020

Gamma-band deficiency and abnormal thalamocortical activity in P/Q-type channel mutant mice

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12 December 2020

Spreading depression: from serendipity to targeted therapy in migraine prophylaxis

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12 December 2020

Primary episodic ataxias: diagnosis, pathogenesis and treatment

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12 December 2020

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

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12 December 2020

Maturation of rat cerebellar Purkinje cells reveals an atypical Ca2+ channel current that is inhibited by omega-agatoxin IVA and the dihydropyridine (-)-(S)-Bay K8644.

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12 December 2020

Structure and regulation of voltage-gated Ca2+ channels

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12 December 2020

Voltage-dependent calcium channels are involved in neurogenic dural vasodilatation via a presynaptic transmitter release mechanism

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12 December 2020

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

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12 December 2020

Localized calcium signalling and neuronal integration in cerebellar Purkinje neurones

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12 December 2020

Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice

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12 December 2020

Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness

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12 December 2020

Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission

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12 December 2020

Calcium control of transmitter release at a cerebellar synapse

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12 December 2020

Cortical spreading depression-new insights and persistent questions.

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12 December 2020

Modal gating of human CaV2.1 (P/Q-type) calcium channels: I. The slow and the fast gating modes and their modulation by beta subunits

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12 December 2020

Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel

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12 December 2020

Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2.

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12 December 2020

Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia

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12 December 2020

Calcium-activated potassium channels are selectively coupled to P/Q-type calcium channels in cerebellar Purkinje neurons.

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12 December 2020

Perisomatic GABA release and thalamocortical integration onto neocortical excitatory cells are regulated by neuromodulators.

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12 December 2020

Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.

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12 December 2020

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

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12 December 2020

Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.

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12 December 2020

Transmitter release modulation by intracellular Ca2+ buffers in facilitating and depressing nerve terminals of pyramidal cells in layer 2/3 of the rat neocortex indicates a target cell-specific difference in presynaptic calcium dynamics

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12 December 2020

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

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12 December 2020

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop

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12 December 2020

Cumulative lifetime migraine incidence in women and men.

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12 December 2020

Increased noise level of purkinje cell activities minimizes impact of their modulation during sensorimotor control.

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12 December 2020

Neurobiology of migraine

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12 December 2020

Action potential-evoked Ca2+ signals and calcium channels in axons of developing rat cerebellar interneurones

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12 December 2020

Impaired feedforward inhibition of the thalamocortical projection in epileptic Ca2+ channel mutant mice, tottering

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12 December 2020

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

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12 December 2020

Motor coordination impairment in aged heterozygous rolling Nagoya, Cav2.1 mutant mice.

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12 December 2020

Distinct Ca2+ channels mediate transmitter release at excitatory synapses displaying different dynamic properties in rat neocortex

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12 December 2020

Knockdown of Cav2.1 calcium channels is sufficient to induce neurological disorders observed in natural occurring Cacna1a mutants in mice

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12 December 2020

Enhanced G protein-dependent modulation of excitatory synaptic transmission in the cerebellum of the Ca2+ channel-mutant mouse, tottering.

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12 December 2020

L-type calcium channels contribute to the tottering mouse dystonic episodes

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12 December 2020

Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine

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12 December 2020

Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function

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12 December 2020

Compensatory contribution of Cav2.3 channels to acetylcholine release at the neuromuscular junction of tottering mice

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12 December 2020

P-type calcium channels in rat central and peripheral neurons

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12 December 2020

Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.

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12 December 2020

The familial hemiplegic migraine mutation R192Q reduces G-protein-mediated inhibition of P/Q-type (Ca(V)2.1) calcium channels expressed in human embryonic kidney cells

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12 December 2020

Impaired neurotransmitter release and elevated threshold for cortical spreading depression in mice with mutations in the alpha1A subunit of P/Q type calcium channels

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12 December 2020

Turning on and off recurrent balanced cortical activity.

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12 December 2020

Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice

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12 December 2020

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

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12 December 2020

Age and gender-dependent alternative splicing of P/Q-type calcium channel EF-hand.

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12 December 2020

Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.

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12 December 2020

The genetic spectrum of a population-based sample of familial hemiplegic migraine

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12 December 2020

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

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12 December 2020

Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia

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12 December 2020

Neurobiology of migraine.

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12 December 2020

Function and dysfunction of synaptic calcium channels: insights from mouse models

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12 December 2020

Splicing of alpha 1A subunit gene generates phenotypic variants of P- and Q-type calcium channels

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12 December 2020

Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.

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12 December 2020

Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.

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12 December 2020

Systematic identification of splice variants in human P/Q-type channel alpha1(2.1) subunits: implications for current density and Ca2+-dependent inactivation

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12 December 2020

Functional compensation of P/Q by N-type channels blocks short-term plasticity at the calyx of Held presynaptic terminal

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12 December 2020

Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia

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12 December 2020

Calcium channel types with distinct presynaptic localization couple differentially to transmitter release in single calyx-type synapses.

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12 December 2020

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

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12 December 2020

The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.

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12 December 2020

Purkinje cell input to cerebellar nuclei in tottering: ultrastructure and physiology.

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12 December 2020

Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant

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12 December 2020

Tonic synaptic inhibition modulates neuronal output pattern and spatiotemporal synaptic integration

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12 December 2020

Characterization of acetylcholine release and the compensatory contribution of non-Ca(v)2.1 channels at motor nerve terminals of leaner Ca(v)2.1-mutant mice

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12 December 2020

Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya

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12 December 2020

A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

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12 December 2020

P/Q-type calcium-channel blockade in the periaqueductal gray facilitates trigeminal nociception: a functional genetic link for migraine?

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12 December 2020

Regulation of presynaptic Ca(V)2.1 channels by Ca2+ sensor proteins mediates short-term synaptic plasticity

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12 December 2020

Migraine: new molecular mechanisms

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12 December 2020

Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells

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12 December 2020

Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma

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12 December 2020

Dominant-negative calcium channel suppression by truncated constructs involves a kinase implicated in the unfolded protein response.

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12 December 2020

Presynaptic homeostasis at CNS nerve terminals compensates for lack of a key Ca2+ entry pathway

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12 December 2020

Familial hemiplegic migraine

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12 December 2020

C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity

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12 December 2020

A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.

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12 December 2020

Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects

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12 December 2020

Presynaptic Ca2+ channels and neurotransmitter release at the terminal of a mouse cortical neuron.

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12 December 2020

High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice

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12 December 2020

Altered properties of quantal neurotransmitter release at endplates of mice lacking P/Q-type Ca2+ channels

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12 December 2020

Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes

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12 December 2020

Calcium dynamics associated with action potentials in single nerve terminals of pyramidal cells in layer 2/3 of the young rat neocortex

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12 December 2020

Deletion of Cav2.1(alpha1(A)) subunit of Ca2+-channels impairs synaptic GABA and glutamate release in the mouse cerebellar cortex in cultured slices.

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12 December 2020

Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel

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12 December 2020

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

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12 December 2020

Striking pattern of Purkinje cell loss in cerebellum of an ataxic mutant mouse, tottering

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12 December 2020

A critical view on the role of migraine triggers in the genesis of migraine pain

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12 December 2020

Identification of CACNA1A large deletions in four patients with episodic ataxia

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12 December 2020

Active contribution of dendrites to the tonic and trimodal patterns of activity in cerebellar Purkinje neurons.

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12 December 2020

Medullary N-type and P/Q-type calcium channels contribute to neuropathy-induced allodynia

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12 December 2020

Functional diversity of P-type and R-type calcium channels in rat cerebellar neurons.

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12 December 2020

The ducky(2J) mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression

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12 December 2020

Acetylcholine release at neuromuscular junctions of adult tottering mice is controlled by N-(cav2.2) and R-type (cav2.3) but not L-type (cav1.2) Ca2+ channels

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12 December 2020

Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.

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12 December 2020

Effects of antagonists to high-threshold calcium channels upon spinal mechanisms of pain, hyperalgesia and allodynia

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12 December 2020

Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

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12 December 2020

Specificity in the interaction of HVA Ca2+ channel types with Ca2+-dependent AHPs and firing behavior in neocortical pyramidal neurons

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12 December 2020

Androgenic suppression of spreading depression in familial hemiplegic migraine type 1 mutant mice

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12 December 2020

Investigation of the role of the cerebellum in the myoclonic-like movement disorder exhibited by tottering mice

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12 December 2020

Release of glutamate and CGRP from trigeminal ganglion neurons: Role of calcium channels and 5-HT1 receptor signaling

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12 December 2020

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

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12 December 2020

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia

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12 December 2020

Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

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12 December 2020

The Cav2.1/alpha1A (P/Q-type) voltage-dependent calcium channel mediates inhibitory neurotransmission onto mouse cerebellar Purkinje cells

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12 December 2020

Pharmacological dissection of multiple types of Ca2+ channel currents in rat cerebellar granule neurons

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12 December 2020

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

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12 December 2020

Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine-expanded alpha1A in SCA6.

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12 December 2020

Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels

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12 December 2020

Presynaptic Ca2+ channels compete for channel type-preferring slots in altered neurotransmission arising from Ca2+ channelopathy

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12 December 2020

P-type calcium channels in the somata and dendrites of adult cerebellar Purkinje cells

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12 December 2020

Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

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12 December 2020

Mechanisms of spreading depression and hypoxic spreading depression-like depolarization

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12 December 2020

CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics

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12 December 2020

Changes in synaptic transmission properties due to the expression of N-type calcium channels at the calyx of Held synapse of mice lacking P/Q-type calcium channels

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12 December 2020

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

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12 December 2020

The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation

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12 December 2020

P/Q-type calcium channels mediate the activity-dependent feedback of syntaxin-1A.

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12 December 2020

Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation

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12 December 2020

Effects of N-, P/Q- and L-type calcium channel blockers on nociceptive neurones of the trigeminal nucleus with input from the dura

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12 December 2020

Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol))

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12 December 2020

The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings

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12 December 2020

Calcium channels and channelopathies of the central nervous system

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12 December 2020

Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons

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12 December 2020

Calcium channel regulation and presynaptic plasticity

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12 December 2020

Motor deficits in homozygous and heterozygous p/q-type calcium channel mutants.

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12 December 2020

Developmental activation of calmodulin-dependent facilitation of cerebellar P-type Ca2+ current.

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12 December 2020

P/Q-type, but not N-type, calcium channels mediate GABA release from fast-spiking interneurons to pyramidal cells in rat prefrontal cortex.

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12 December 2020

Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics

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12 December 2020

Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.

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12 December 2020

A CaV2.1 calcium channel mutation rocker reduces the number of postsynaptic AMPA receptors in parallel fiber-Purkinje cell synapses

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12 December 2020

Diseases of unstable repeat expansion: mechanisms and common principles

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12 December 2020

Migraine genetics: an update

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12 December 2020

Properties of Q-type calcium channels in neostriatal and cortical neurons are correlated with beta subunit expression.

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12 December 2020

10.1007/S00424-010-0802-8

Identifiers

DOI

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Dimensions Publication ID

27 July 2017

1047118757

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