INT260049

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

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 Nav1.1 5 5.00 sodium channel 5 5.00 imagery 5 5.00

Disease Link Frequency Relevance Heat Cognitive Disorder 160 100.00 Epilepsy 190 99.70 Intellectual Impairment 60 99.20 Generalized Epilepsy 5 97.80 Syndrome 350 97.44 Febrile Convulsions 25 96.76 Disease 45 95.24 Adhesions 10 86.56 Congenital Anomalies 10 81.00 Encephalopathy 30 75.00

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.