rs587784299
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.800 |
CausalMutation |
CLINVAR |
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
|
27527380 |
2017 |
rs796052839
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.800 |
CausalMutation |
CLINVAR |
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
|
27527380 |
2017 |
rs201989363
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs267606933
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs587784299
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs796052839
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs201989363
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs267606933
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs587784299
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs796052839
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs587784299
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.800 |
CausalMutation |
CLINVAR |
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
|
23808377 |
2013 |
rs796052839
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.800 |
CausalMutation |
CLINVAR |
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
|
23334464 |
2013 |
rs201989363
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
rs201989363
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
rs267606933
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
rs267606933
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
rs587784299
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
rs587784299
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
rs587784299
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.800 |
CausalMutation |
CLINVAR |
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
|
22946748 |
2012 |
rs587784299
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.800 |
CausalMutation |
CLINVAR |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
rs796052839
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.800 |
CausalMutation |
CLINVAR |
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
|
22946748 |
2012 |
rs796052839
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.800 |
CausalMutation |
CLINVAR |
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
|
22848613 |
2012 |
rs796052839
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
rs796052839
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
rs201989363
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
|
21480887 |
2011 |