INT153599

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Context Info
Confidence 0.75
First Reported 2005
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 8
Total Number 8
Disease Relevance 7.01
Pain Relevance 1.47

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

plasma membrane (SCN1A) transmembrane transport (SCN1A)
Anatomy Link Frequency
brain 1
sperm 1
SCN1A (Homo sapiens)
Pain Link Frequency Relevance Heat
Nav1.1 16 100.00 Very High Very High Very High
nav1.8 9 100.00 Very High Very High Very High
Nav1.6 7 100.00 Very High Very High Very High
Nav1.7 7 100.00 Very High Very High Very High
nav1.3 7 100.00 Very High Very High Very High
Nav1.2 5 100.00 Very High Very High Very High
Nav1.9 4 100.00 Very High Very High Very High
Eae 8 97.80 Very High Very High Very High
sodium channel 56 94.72 High High
Action potential 2 85.68 High High
Disease Link Frequency Relevance Heat
Myoclonic Epilepsies 14 100.00 Very High Very High Very High
Syndrome 213 99.96 Very High Very High Very High
Disease 35 99.96 Very High Very High Very High
Photophobia 1 99.92 Very High Very High Very High
Myoclonus 18 99.80 Very High Very High Very High
Targeted Disruption 3 95.68 Very High Very High Very High
Epilepsy 121 93.76 High High
Partial Seizures 6 91.68 High High
Language Development Disorders 9 91.04 High High
Convulsion 84 86.80 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Although individual rhythmic outputs (e.g., locomotor activity, birdsong etc) might be observed to be bimodally expressed, more proximate measures of clock function (e.g., SCN clock gene expression, light sensitivity of the pacemaker, melatonin secretion, etc) tend to alternate unimodally with a period near 24 h [10-12].
Gene_expression (expression) of SCN associated with eae and photophobia
1) Confidence 0.75 Published 2005 Journal BMC Neurosci Section Body Doc Link PMC1180451 Disease Relevance 0.10 Pain Relevance 0.05
subunits SCN1A (Nav1.1, 225 bp), SCN2A (Nav1.2, 297 bp), SCN3A (Nav1.3, 367 bp), SCN4A (Nav1.4, 317 bp), SCN5A (Nav1.5, 294 bp), SCN8A (Nav1.6, 207 bp), SCN9A (Nav1.7, 289 bp), SCN10A (Nav1.8, 347 bp), SCN11A (Nav1.9, 272 bp) and the related isoform SCN7A (Nax, 327 bp) were all expressed in human sperm cDNA (Fig 1).
Gene_expression (expressed) of SCN1A in sperm associated with nav1.3, nav1.1, nav1.2, nav1.8, nav1.7, nav1.6 and nav1.9
2) Confidence 0.74 Published 2009 Journal Reprod Biol Endocrinol Section Body Doc Link PMC2724540 Disease Relevance 0 Pain Relevance 0.98
Since it is not possible to evaluate every concept from each of the dictionaries across all 5,243 documents, we selected the SCN1A gene as the reference.
Gene_expression (selected) of SCN1A
3) Confidence 0.60 Published 2008 Journal BMC Genomics Section Body Doc Link PMC2631582 Disease Relevance 0.08 Pain Relevance 0.05
These findings will also help in exploring the possibility of promoter mutant-induced diseases and revealing the mechanism underlying the regulation of SCN1A expression in the normal brain.
Gene_expression (expression) of SCN1A in brain associated with disease
4) Confidence 0.60 Published 2008 Journal J. Neurosci. Res. Section Abstract Doc Link 18655196 Disease Relevance 0.24 Pain Relevance 0.14
Therefore, in individuals, these divergent clinical characteristics are not sufficient to distinguish between patients with SCN1A or PCDH19 mutations, and the two clinical spectrums largely overlap.
Gene_expression (mutations) of SCN1A
5) Confidence 0.59 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 1.71 Pain Relevance 0
Patients with SMEI but without myoclonia have been previously referred as SMEB (borderline severe myoclonic epilepsy in infancy) [22], but SMEI and SMEB are currently grouped together under the term DS.
Gene_expression (grouped) of SMEI associated with syndrome and myoclonic epilepsies
6) Confidence 0.59 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 1.78 Pain Relevance 0
Finally, myoclonic jerks and atypical absences were present in only 2 and 3 patients, respectively, whereas they are frequent features in SCN1A-DS (myoclonic jerks: 55/110, p<0.018; atypical absences: 92/108, p<0.0001).
Gene_expression (present) of SCN1A associated with myoclonus and syndrome
7) Confidence 0.52 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 2.10 Pain Relevance 0
The SCN1A-KI mice well reproduced the SMEI disease phenotypes.
Gene_expression (reproduced) of SMEI associated with myoclonic epilepsies and disease
8) Confidence 0.06 Published 2009 Journal Brain Dev. Section Abstract Doc Link 19203854 Disease Relevance 1.01 Pain Relevance 0.26

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