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 |
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 |
We identify that psychotic disorders, including schizophrenia, are a later-onset manifestation of PCDH19 Girls Clustering Epilepsy.
|
30828795 |
2019 |
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
The periodicity of cluster seizures mimicking that of PCDH19-related epilepsy may characterize SMC1A-related encephalopathy.
|
31185419 |
2019 |
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
To date about 150 mutations have been identified as causative for PCDH19-female epilepsy (also known as early infantile epileptic encephalopathy-9, EIEE9), which is characterized by early onset epilepsy, intellectual disabilities, and behavioral disturbances.
|
30431232 |
2019 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and PCDH19 mutations.
|
30530412 |
2018 |
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
|
29064093 |
2018 |
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here, we report such evidence: - a male child with KS and PCDH19-related epilepsy - supporting the PCDH19 cellular interference disease hypothesis.
|
29933145 |
2018 |
Epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females.
|
30572518 |
2018 |
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
|
28471529 |
2017 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in the X-linked gene Protocadherin-19 (Pcdh19) cause female-limited epilepsy and mental retardation in humans.
|
28724954 |
2017 |
Epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females.
|
27527380 |
2017 |
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 |
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 |
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 |
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 |
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 |