INT66331

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Context Info
Confidence 0.78
First Reported 1996
Last Reported 2011
Negated 6
Speculated 1
Reported most in Abstract
Documents 101
Total Number 110
Disease Relevance 49.58
Pain Relevance 46.32

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

transport (Cacna1a) DNA binding (Cacna1a) transmembrane transport (Cacna1a)
cytoplasm (Cacna1a) cell death (Cacna1a) nucleus (Cacna1a)
Anatomy Link Frequency
synapses 30
brain 5
juvenile 4
neurons 4
pore 3
Cacna1a (Mus musculus)
Pain Link Frequency Relevance Heat
amygdala 4839 100.00 Very High Very High Very High
qutenza 723 100.00 Very High Very High Very High
Migraine 486 100.00 Very High Very High Very High
Calcium channel 66 100.00 Very High Very High Very High
Pyramidal cell 54 100.00 Very High Very High Very High
long-term potentiation 666 99.96 Very High Very High Very High
Hyperalgesia 17 99.56 Very High Very High Very High
depression 53 98.94 Very High Very High Very High
Inflammation 596 98.88 Very High Very High Very High
headache 107 98.88 Very High Very High Very High
Disease Link Frequency Relevance Heat
Migraine With Aura 236 100.00 Very High Very High Very High
Ataxia 96 100.00 Very High Very High Very High
Spinocerebellar Ataxia Type 2 53 100.00 Very High Very High Very High
Targeted Disruption 379 99.92 Very High Very High Very High
Cancer 879 99.88 Very High Very High Very High
Epilepsy 95 99.86 Very High Very High Very High
Malignant Neoplastic Disease 98 99.84 Very High Very High Very High
Headache 329 99.76 Very High Very High Very High
Cluster Headache 78 99.76 Very High Very High Very High
Syndrome 18 99.74 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Here, we have used whole-cell recordings to determine whether the leaner mutation alters calcium channel currents in cerebellar Purkinje cells, both because these cells are profoundly affected in leaner mice and because they normally express high levels of alpha1A.
Gene_expression (express) of alpha1A in Purkinje cells associated with calcium channel
1) Confidence 0.78 Published 1998 Journal J. Neurosci. Section Abstract Doc Link 9614225 Disease Relevance 0.44 Pain Relevance 0.19
The phenotypic spectrum of the CACNA1A mutations has further expanded to include ataxia induced by fever or high temperature [18], childhood epilepsy [19,20] and status epilepticus [21], paroxysmal paranoid psychosis with anxiety [22], benign paroxysmal torticollis of infancy, considered a migraine equivalent [23], and even myasthenic syndrome [24], since CACNA1A is also expressed on presynaptic neuromuscular junction terminals where it modulates transmitter release [25] even in the absence of any morphological changes in the junction or muscle weakness [26].
Gene_expression (expressed) of CACNA1A in muscle associated with ataxia, syndrome, torticollis, migraine, anxiety disorder, status epilepticus, fever, schizophrenia, epilepsy and muscle weakness
2) Confidence 0.77 Published 2008 Journal J Headache Pain Section Body Doc Link PMC2276243 Disease Relevance 2.62 Pain Relevance 0.85
In contrast, surface expression of TM channels, measured by immunostaining against an extracellular epitope, was not decreased, and Western blots demonstrated that TM alpha1A subunits were expressed as full-length proteins.
Gene_expression (expressed) of TM alpha1A
3) Confidence 0.76 Published 2005 Journal J. Biol. Chem. Section Abstract Doc Link 15795222 Disease Relevance 0.21 Pain Relevance 0.25
Fifty percent of families with FHM are linked to chromosome 19p13 and mutations demonstrated for some in a brain expressed calcium channel alpha 1A subunit, CACNL1A4.
Gene_expression (expressed) of CACNL1A4 in brain associated with calcium channel and migraine
4) Confidence 0.76 Published 1999 Journal Can J Neurol Sci Section Abstract Doc Link 10563232 Disease Relevance 1.06 Pain Relevance 1.08
Knock-in (KI) transgenic mice expressing Ca(V)2.1 Ca(2+) channels with a human pathogenic FHM1 mutation reveal enhanced glutamatergic neurotransmission in the cortex.
Gene_expression (expressing) of FHM1 in cortex associated with targeted disruption
5) Confidence 0.67 Published 2010 Journal Proteomics Section Abstract Doc Link 20391530 Disease Relevance 0.44 Pain Relevance 0.24
The CACNA1A gene locus was excluded in this family by haplotype analysis and no mutations were identified in the coding region of the ATP1A2 gene by direct sequencing.
Gene_expression (excluded) of CACNA1A
6) Confidence 0.66 Published 2005 Journal Headache Section Body Doc Link 16178956 Disease Relevance 0.34 Pain Relevance 0
Changes in the electrophysiologic properties of the mutated forms of the CACNL1A4 calcium channel expressed in heterologous systems help establish the functional significance of the mutations and suggest that chromosome 19p-linked FHM, an episodic disorder, represents a CNS channelopathy.
Gene_expression (expressed) of CACNL1A4 associated with migraine, calcium channel and channelopathies
7) Confidence 0.66 Published 1999 Journal Can J Neurol Sci Section Abstract Doc Link 10563232 Disease Relevance 1.29 Pain Relevance 1.26
This review discusses the functional studies of two FHM1 knockin mice and of several FHM mutants in heterologous expression systems (12 FHM1, 8 FHM2, and 1 FHM3).
Gene_expression (expression) of FHM associated with migraine
8) Confidence 0.65 Published 2007 Journal Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics Section Abstract Doc Link 17395138 Disease Relevance 0.68 Pain Relevance 0.62
Knockdown of Cav2.1 calcium channels is sufficient to induce neurological disorders observed in natural occurring Cacna1a mutants in mice.
Gene_expression (mutants) of Cacna1a associated with neurological disease and calcium channel
9) Confidence 0.65 Published 2009 Journal Biochem. Biophys. Res. Commun. Section Title Doc Link 19854154 Disease Relevance 0.93 Pain Relevance 0.22
These studies show the following: (1) FHM1 mutations produce gain-of-function of the Ca(V)2.1 channel and, as a consequence, increased Ca(V)2.1-dependent neurotransmitter release from cortical neurons and facilitation of in vivo induction and propagation of cortical spreading depression (CSD: the phenomenon underlying migraine aura); (2) FHM2 mutations produce loss-of-function of the alpha2 Na+,K+-ATPase; and (3) the FHM3 mutation accelerates recovery from fast inactivation of Na(V)1.5 (and presumably Na(V)1.1) channels.
Gene_expression (produce) of FHM2 in neurons associated with epilepsy, neurotransmitter, depression and migraine
10) Confidence 0.59 Published 2007 Journal Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics Section Abstract Doc Link 17395138 Disease Relevance 0.90 Pain Relevance 0.90
The genetics of FHM and their putative relationship with the typical migraines MA/MO
Gene_expression (genetics) of FHM associated with epilepsy, cluster headache and migraine
11) Confidence 0.59 Published 2008 Journal J Headache Pain Section Body Doc Link PMC2276243 Disease Relevance 3.12 Pain Relevance 1.27
In contrast to the normal learned changes in VOR gain, the changes in VOR phase induced by the ten training paradigms were significantly smaller in the leaner heterozygotes and ?
Gene_expression (heterozygotes) of leaner
12) Confidence 0.58 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2572847 Disease Relevance 0 Pain Relevance 0
However, the heterozygous leaner mutants and hemizygous ?
Gene_expression (mutants) of leaner
13) Confidence 0.58 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2572847 Disease Relevance 0.27 Pain Relevance 0.04
This observation, combined with the normal baseline VOR and OKR performance of the leaner heterozygous and ?
Gene_expression (heterozygous) of leaner
14) Confidence 0.58 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2572847 Disease Relevance 0 Pain Relevance 0
Compared to healthy controls, more patients with FHM with coexisting MA or MO reported migraine-like attacks than controls (p = 0.03), whereas the FHM group with the pure FHM phenotype did not (p > 0.05).
Gene_expression (group) of FHM
15) Confidence 0.58 Published 2010 Journal Neurology Section Body Doc Link 20157162 Disease Relevance 0.29 Pain Relevance 0
Compared to healthy controls, more patients with FHM with coexisting MA or MO reported migraine-like attacks than controls (p = 0.03), whereas the FHM group with the pure FHM phenotype did not (p > 0.05).
Gene_expression (group) of FHM
16) Confidence 0.58 Published 2010 Journal Neurology Section Body Doc Link 20157162 Disease Relevance 0.29 Pain Relevance 0
Some types of ataxias show a partly different molecular background (eg, SCA8, SCA10, SCA12, and some forms of SCA6), since they involve repeats (not necessarily CAG) that are not translated, or they do not involve repeats at all.
Gene_expression (forms) of SCA6 associated with ataxia
17) Confidence 0.55 Published 2005 Journal Neuropsychiatric Disease and Treatment Section Body Doc Link PMC2413192 Disease Relevance 0.67 Pain Relevance 0
These studies show the following: (1) FHM1 mutations produce gain-of-function of the Ca(V)2.1 channel and, as a consequence, increased Ca(V)2.1-dependent neurotransmitter release from cortical neurons and facilitation of in vivo induction and propagation of cortical spreading depression (CSD: the phenomenon underlying migraine aura); (2) FHM2 mutations produce loss-of-function of the alpha2 Na+,K+-ATPase; and (3) the FHM3 mutation accelerates recovery from fast inactivation of Na(V)1.5 (and presumably Na(V)1.1) channels.
Gene_expression (produce) of FHM1 in neurons associated with epilepsy, neurotransmitter, depression and migraine
18) Confidence 0.52 Published 2007 Journal Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics Section Abstract Doc Link 17395138 Disease Relevance 0.73 Pain Relevance 0.64
In over 50% of cases the causative gene is CACNA1A (FHM1), which in some cases produces a phenotype with cerebellar signs, including ataxia and nystagmus.
Gene_expression (produces) of FHM1 associated with ataxia and ocular toxicity (including many sub-types)
19) Confidence 0.52 Published 2004 Journal Neurogenetics Section Abstract Doc Link 15459825 Disease Relevance 1.05 Pain Relevance 0.34
Transcripts of alpha1A, alpha1B, alpha1E, alpha1F, alpha1H, beta3, and beta4 subunits were detected by polymerase-chain reaction (PCR) in the dorsal root ganglion, suggesting the existence of a variety of voltage-dependent Ca2+ channels.
Gene_expression (Transcripts) of alpha1A in dorsal root ganglion associated with ganglion cysts and dorsal root ganglion
20) Confidence 0.49 Published 2001 Journal Eur. J. Pharmacol. Section Abstract Doc Link 11426839 Disease Relevance 0.28 Pain Relevance 0.42

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