Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The clinical spectrum of PCDH19 mutation includes PCDH19 Girls Clustering Epilepsy with or without mental retardation, psychosis, and asymptomatic male.
|
31714027 |
2019 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females.
|
30572518 |
2018 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
PCDH19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almost exclusively affects females.
|
29933145 |
2018 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the X-linked gene Protocadherin-19 (Pcdh19) cause female-limited epilepsy and mental retardation in humans.
|
28724954 |
2017 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
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 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes.
|
26820223 |
2016 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
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 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
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 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration.
|
23334464 |
2013 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, missense and truncating mutations in the gene PCDH19 have been reported to cause female-restricted epilepsy with mental retardation (EFMR).
|
22091964 |
2012 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the protocadherin 19 (PCDH19) gene cause epilepsy and mental retardation limited to females (EFMR).
|
21519002 |
2011 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
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 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
|
19752159 |
2010 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
PCDH19 is emerging as a major gene for infantile-onset familial or sporadic epilepsy in female patients with or without mental retardation.
|
20713952 |
2010 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
|
20830798 |
2010 |
Mental Retardation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation.
|
18469813 |
2008 |