Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The clinical spectrum of PCDH19 mutation includes PCDH19 Girls Clustering Epilepsy with or without mental retardation, psychosis, and asymptomatic male.
|
31714027 |
2019 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
PCDH19-Girls Clustering Epilepsy (GCE) is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features.
|
31678000 |
2019 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Protocadherin 19 (PCDH19) mutations have been identified in epilepsy in females with mental retardation as well as patients with a "Dravet-like" phenotype.
|
30530412 |
2018 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In the present study, we assessed mutations in the PCDH19 gene and the clinical features of a group of Chinese patients with early infantile epileptic encephalopathy and aimed to provide further insight into the understanding of epilepsy and mental retardation limited to females (EFMR; MIM 300088).
|
29866057 |
2018 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features.
|
30451291 |
2018 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females.
|
30572518 |
2018 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
PCDH19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almost exclusively affects females.
|
29933145 |
2018 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances.
|
28669061 |
2017 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutations in the X-linked gene Protocadherin-19 (Pcdh19) cause female-limited epilepsy and mental retardation in humans.
|
28724954 |
2017 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes.
|
26820223 |
2016 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Additionally, a heterozygous c.2926G>A (Asp976Asn) of PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to females (EFMR).
|
27177984 |
2016 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
PCDH19-related epilepsy is a genetic disorder that was first described in 1971, then referred to as "epilepsy and mental retardation limited to females".
|
26898795 |
2016 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our results show a large spectrum of ID and a very high rate of ASD in patients with epilepsy and PCDH-19 mutations.
|
27179713 |
2016 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
The present findings confirm that PCDH19 is a major causative gene for infantile onset familial or sporadic epilepsy in female patients with or without mental retardation.
|
25218114 |
2015 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
PCDH19-related epilepsy is an emerging epileptic syndrome characterized by the occurrence of epilepsy in female patients associated with mental retardation and autistic features in most cases.
|
25510386 |
2015 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental retardation limited to females, EFMR; MIM300088) is an infantile onset epilepsy syndrome with or without intellectual disability (ID) and autism.
|
26123493 |
2015 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration.
|
23334464 |
2013 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The occurrence of epilepsy with mental retardation limited to females (EFMR; MIM 300088) has been recently associated to mutations in the PCDH19 gene, located on chromosome X and encoding for protocadherin 19.
|
22949144 |
2012 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
It indicates that PCDH19 mutation testing should be performed in sporadic cases with no family history that still demonstrate well-established features of peculiar X-linked epilepsy with mental retardation limited to females.
|
22633638 |
2012 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features.
|
22946748 |
2012 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Heterozygous PCDH19 mutations were initially identified in epilepsy and mental retardation limited to females, a familial disorder with a singular mode of inheritance as only heterozygous females are affected, whereas hemizygous males are asymptomatic.
|
22267240 |
2012 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.
|
22091964 |
2012 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the protocadherin 19 (PCDH19) gene cause epilepsy and mental retardation limited to females (EFMR).
|
21519002 |
2011 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation.
|
21053371 |
2011 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
|
20830798 |
2010 |