×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
21480887
2011
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
BEFREE
In conclusion, our results suggest that deletions at PCDH19 also cause EFMR .
22091964
2012
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
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
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
18469813
2008
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
21053371
2011
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
20713952
2010
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
22267240
2012
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
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
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
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
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
20830798
2010
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
19214208
2009
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
CLINVAR
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
21053371
2011
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
21519002
2011
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GeneticVariation
disease
UNIPROT
PCDH19 mutation in Japanese females with epilepsy.
22050978
2012
×
Entrez Id:
7105
Gene Symbol:
TSPAN6
TSPAN6
0.010
GeneticVariation
disease
BEFREE
Deletions of Tetraspanin 6 (Tspan6 ) gene, a member of the tetraspanin family, have been reported in patients with Epilepsy Female-restricted with Mental Retardation (EFMR ).
28207852
2017
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
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
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
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
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
Biomarker
disease
CTD_human
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
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
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
23808377
2013
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
PCDH19-related epilepsy in two mosaic male patients.
26765483
2016
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
21053371
2011
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].
27143072
2016
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
21480887
2011