|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the protocadherin 19 (PCDH19) gene is an increasingly recognized cause of epilepsy in females.
|
22504056 |
2012 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
|
22946748 |
2012 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Other types of seizures were found in both epilepsies with a prevalence of GTCS and atypical absences in DS, and focal motor and hypomotor seizures in PCDH19-related epilepsy.
|
27371789 |
2016 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
|
28471529 |
2017 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
The PCDH19 gene (Xp22.1) encodes the cell-adhesion protein protocadherin-19 (PCDH19) and is responsible for a neurodevelopmental pathology characterized by female-limited epilepsy, cognitive impairment and autistic features, the pathogenic mechanisms of which remain to be elucidated.
|
29360992 |
2018 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results suggest that PCDH19 plays a major role in epileptic encephalopathies, with a clinical spectrum overlapping that of DS.This disorder mainly affects females.
|
19214208 |
2009 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our results highlight the role of PCDH19 in determining cell adhesion affinities during cortical development and the way segregation of WT and null PCDH19 cells is associated with the unique X-linked inheritance of PCDH19 epilepsy.
|
29301106 |
2018 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To date, disease-causing mutations are established for PCDH19 in patients with epilepsy, cognitive impairment and/or autistic features.
|
22765916 |
2012 |
|
Epilepsy
|
0.600 |
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 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
PCDH19 has become the second most relevant gene in epilepsy after SCN1A.
|
22267240 |
2012 |
|
Epilepsy
|
0.600 |
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 |
|
Epilepsy
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Overall our initial characterization of Pcdh19(+/β-Geo), Pcdh19(β-Geo/β-Geo) and Pcdh19(Y/β-Geo)mice reveals that despite widespread expression of Pcdh19 in the CNS, and its role in human epilepsy, its function in mice is not essential for brain development.
|
27240640 |
2016 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Despite being the second most prevalent monogeneic cause of epilepsy, little is known about the role of PCDH19 in brain development.
|
29763708 |
2018 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
In mice and humans, epilepsy occurs only in heterozygous females who have a mixture of PCDH19 wild-type (WT) and mutant cells caused by random X-inactivation; it does not occur in hemizygous PCDH19 mutant males.
|
31747920 |
2019 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Whereas the majority of individuals had ID, we highlight the possibility of average intellect in the setting of PCDH19-related epilepsy.
|
29377098 |
2018 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
We retrospectively collected genetic, clinical, and electroencephalogram (EEG) data of 61 patients with PCDH19-related epilepsy followed at 15 epilepsy centers.
|
30451291 |
2018 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
This PCDH19-NONO-ERα axis is of relevance not only to PCDH19-epilepsy and its comorbidities but likely also to ERα and generally nuclear hormone receptor-associated cancers.
|
28334947 |
2017 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Following recent descriptions of PCDH19 mutation in girls with epilepsy, we sequenced this gene in patients with infantile or early childhood seizures onset, either focal or generalized, without an obvious etiology.
|
21480887 |
2011 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
We describe for the first time two mosaic PCDH19 point mutations in two male patients with a clinical picture suggestive of PCDH19-related epilepsy.
|
26765483 |
2016 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Eight females aged 5 to 17years old with PCDH-19 mutations and epilepsy were recruited.
|
27179713 |
2016 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
|
20830798 |
2010 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years).
|
26820223 |
2016 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We described three variations in the PCDH19 gene in Chinese patients with epilepsy who developed generalized seizures occurring in clusters with or without triggering by fever.
|
29866057 |
2018 |
|
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
PCDH19 has become the second most relevant gene in epilepsy after SCN1A.Seizures often provoked by fever.
|
31714027 |
2019 |
|
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In addition, we show that several PCDH19-FE missense mutations localize to the adhesive interface and abolish Pcdh19 adhesion in <i>in vitro</i> assays, thus revealing the biochemical basis of their pathogenic effects during brain development.
|
27787195 |
2016 |