×
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
BEFREE
In the present study, we describe a PCDH19 mutation segregating from an asymptomatic mother to an EFMR patient.
22949144
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
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
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
22848613
2012
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
20713952
2010
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
27527380
2017
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
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
CausalMutation
disease
CLINVAR
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
22946748
2012
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
18469813
2008
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
CausalMutation
disease
CLINVAR
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
22267240
2012
×
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
CausalMutation
disease
CLINVAR
Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation.
2267240
1990
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
Biomarker
disease
CTD_human
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GermlineCausalMutation
disease
ORPHANET
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
GermlineCausalMutation
disease
ORPHANET
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
18469813
2008
×
Entrez Id:
57526
Gene Symbol:
PCDH19
PCDH19
0.720
GermlineCausalMutation
disease
ORPHANET
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
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
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