rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
|
18469813 |
2008 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
|
19214208 |
2009 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
|
19752159 |
2010 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
|
20713952 |
2010 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
|
20830798 |
2010 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
|
21519002 |
2011 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
|
21480887 |
2011 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs1555985448
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |