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Times Cited: 127
Times Cited: 127
Times Cited
Times Co-cited
Similarity
Absence epilepsy in tottering mutant mice is associated with calcium channel defects.
C F Fletcher, C M Lutz, T N O'Sullivan, J D Shaughnessy, R Hawkes, W N Frankel, N G Copeland, N A Jenkins. Cell 1996
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Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel.
M Wakamori, K Yamazaki, H Matsunodaira, T Teramoto, I Tanaka, T Niidome, K Sawada, Y Nishizawa, N Sekiguchi, E Mori,[...]. J Biol Chem 1998
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Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant mice.
L S Dove, L C Abbott, W H Griffith. J Neurosci 1998
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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
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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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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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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
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Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels.
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Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a.
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Cerebellar cell degeneration in the leaner mutant mouse.
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Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity.
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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
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Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice.
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Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
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Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering.
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Splicing of alpha 1A subunit gene generates phenotypic variants of P- and Q-type calcium channels.
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Presynaptic Ca(2+) influx at a mouse central synapse with Ca(2+) channel subunit mutations.
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Structure and function of neuronal Ca2+ channels and their role in neurotransmitter release.
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Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami.
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Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.
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The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.
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Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
R L Kraus, M J Sinnegger, H Glossmann, S Hering, J Striessnig. J Biol Chem 1998
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Expression of calcium channel alpha1A mRNA and protein in the leaner mouse (tgla/tgla) cerebellum.
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Altered calcium homeostasis in cerebellar Purkinje cells of leaner mutant mice.
L S Dove, S S Nahm, D Murchison, L C Abbott, W H Griffith. J Neurophysiol 2000
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Calcium channels and channelopathies of the central nervous system.
Daniela Pietrobon. Mol Neurobiol 2002
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Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
S Guida, F Trettel, S Pagnutti, E Mantuano, A Tottene, L Veneziano, T Fellin, M Spadaro, K Stauderman, M Williams,[...]. Am J Hum Genet 2001
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16
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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Bidirectional alterations in cerebellar synaptic transmission of tottering and rolling Ca2+ channel mutant mice.
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An ultrastructural study of granule cell/Purkinje cell synapses in tottering (tg/tg), leaner (tg(la)/tg(la)) and compound heterozygous tottering/leaner (tg/tg(la)) mice.
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Tottering--a neuromusclar mutation in the mouse. And its linkage with oligosyndacylism.
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Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
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A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.
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Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca(2+) channel mutation.
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Purkinje cell loss from alternating sagittal zones in the cerebellum of leaner mutant mice.
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Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics.
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Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
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Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
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Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
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