INT260048

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Context Info
Confidence 0.37
First Reported 2009
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 4
Disease Relevance 4.77
Pain Relevance 0

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)
PCDH19 (Homo sapiens)
Pain Link Frequency Relevance Heat
Central nervous system 4 5.00 Very Low Very Low Very Low
Nav1.1 4 5.00 Very Low Very Low Very Low
sodium channel 4 5.00 Very Low Very Low Very Low
imagery 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Cognitive Disorder 128 100.00 Very High Very High Very High
Intellectual Impairment 48 99.96 Very High Very High Very High
Epilepsy 152 99.04 Very High Very High Very High
Disease 36 97.60 Very High Very High Very High
Fever 28 96.36 Very High Very High Very High
Convulsion 112 95.52 Very High Very High Very High
Syndrome 280 93.12 High High
Language Development Disorders 12 93.12 High High
Partial Seizures 8 81.84 Quite High
Encephalopathy 24 75.76 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
In conclusion, these results extend the clinical spectrum associated with PCDH19 mutations: we demonstrated that mutations in this gene are not limited to familial female patients, but can also account for isolated cases.
PCDH19 Binding (associated) of
1) Confidence 0.37 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 0.71 Pain Relevance 0
Patients with PCDH19 and SCN1A mutations had very similar clinical features including the association of early febrile and afebrile seizures, seizures occurring in clusters, developmental and language delays, behavioural disturbances, and cognitive regression.
PCDH19 Binding (Patients) of associated with cognitive disorder, convulsion, fever and language development disorders
2) Confidence 0.37 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2633044 Disease Relevance 1.36 Pain Relevance 0
Forty-one of these patients were initially selected for the microarray analysis and 33 were later on included for sequencing of PCDH19.
PCDH19 Binding (sequencing) of
3) Confidence 0.37 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 1.00 Pain Relevance 0
Mutations in PCDH19 were recently reported to cause EFMR, which also associates mental retardation and epilepsy exclusively in females.
EFMR Binding (associates) of associated with epilepsy, cognitive disorder and intellectual impairment
4) Confidence 0.35 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2633044 Disease Relevance 1.71 Pain Relevance 0

General Comments

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