EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
|
28462982 |
2017 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
|
27527380 |
2017 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
PCDH19-related epilepsy in two mosaic male patients.
|
26765483 |
2016 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].
|
27143072 |
2016 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
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 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
|
23808377 |
2013 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our results suggest that deletions at PCDH19 also cause EFMR.
|
22091964 |
2012 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we describe a PCDH19 mutation segregating from an asymptomatic mother to an EFMR patient.
|
22949144 |
2012 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
|
22848613 |
2012 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
|
22946748 |
2012 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
|
21480887 |
2011 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
|
21480887 |
2011 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
|
21519002 |
2011 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
|
20830798 |
2010 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
|
19752159 |
2010 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
|
20713952 |
2010 |
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
|
19752159 |
2010 |