INT260049

From wiki-pain
Jump to: navigation, search
Context Info
Confidence 0.58
First Reported 2009
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 5
Disease Relevance 4.41
Pain Relevance 0.04

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

cell adhesion (PCDH19) plasma membrane (PCDH19)
Anatomy Link Frequency
skin 1
PCDH19 (Homo sapiens)
Pain Link Frequency Relevance Heat
Central nervous system 5 89.32 High High
Nav1.1 5 5.00 Very Low Very Low Very Low
sodium channel 5 5.00 Very Low Very Low Very Low
imagery 5 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Cognitive Disorder 160 100.00 Very High Very High Very High
Epilepsy 190 99.70 Very High Very High Very High
Intellectual Impairment 60 99.20 Very High Very High Very High
Generalized Epilepsy 5 97.80 Very High Very High Very High
Syndrome 350 97.44 Very High Very High Very High
Febrile Convulsions 25 96.76 Very High Very High Very High
Disease 45 95.24 Very High Very High Very High
Adhesions 10 86.56 High High
Congenital Anomalies 10 81.00 Quite High
Encephalopathy 30 75.00 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
This hypothesis supposes that the loss of protocadherin 19 is compensated for, but by a mechanism that is relatively independent of gender.
Negative_regulation (loss) of protocadherin 19
1) Confidence 0.58 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 0.36 Pain Relevance 0
To test whether a PCDH19 deficiency might be implicated in some epileptic encephalopathies resembling Dravet syndrome, we sequenced the coding region of this gene in 73 SCN1A-negative probands (the remaining 40 patients of the initial series plus 33 additional patients, for a total of 45 females and 28 males).
Negative_regulation (deficiency) of PCDH19 associated with epilepsy and syndrome
2) Confidence 0.43 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 0.48 Pain Relevance 0.04
The single male with a PCDH19 deficiency was mosaic in his skin; i.e., some of his cells express PCDH19 and others do not.
Negative_regulation (deficiency) of PCDH19 in skin
3) Confidence 0.43 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2633044 Disease Relevance 1.25 Pain Relevance 0
How, then, can we explain the affected male in our series with a deletion of the entire PCDH19?
Negative_regulation (deletion) of PCDH19
4) Confidence 0.37 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 0.56 Pain Relevance 0
Interestingly, the variability in the severity of epilepsy and cognitive impairment in EFMR is reminiscent of what is observed in GEFS+ families (generalized epilepsy with febrile seizures plus, # MIM# 604233), an autosomal dominant condition that also associates febrile seizures with epilepsy of variable types and severity, and which is associated in ?
Negative_regulation (impairment) of EFMR associated with epilepsy, cognitive disorder, febrile convulsions and generalized epilepsy
5) Confidence 0.37 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 1.76 Pain Relevance 0

General Comments

This test has worked.

Personal tools
Namespaces

Variants
Actions
Navigation
Toolbox