Brain Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Mutations in protocadherin 19 (PCDH19), which is on the X-chromosome, cause the brain disease Epilepsy in Females with Mental Retardation (EFMR).
|
31747920 |
2019 |
Nonorganic psychosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We evaluated whether psychosis and serious behavioral problems had occurred in 60 females (age 2-75 years) with PCDH19 pathogenic variants belonging to 35 families.
|
30828795 |
2019 |
Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
The RNA-seq data from The Cancer Genome Atlas Database were downloaded and used for analyzing PCDH19 expression in HCC patients and normal liver tissues.
|
29749051 |
2018 |
Klinefelter Syndrome
|
0.010 |
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 |
Klinefelter's syndrome - male with more than two X chromosomes
|
0.010 |
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 |
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
The RNA-seq data from The Cancer Genome Atlas Database were downloaded and used for analyzing PCDH19 expression in HCC patients and normal liver tissues.
|
29749051 |
2018 |
Neurodevelopmental Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A).
|
28837158 |
2018 |
Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
PCHD19 promoter was frequently hypermethylated in three (SMMC7721, Hep3B and SNU387) of seven HCC cell lines and 5-aza-dC treatment could significantly increased the PCDH19 expression in these methylated cells.
|
29749051 |
2018 |
Cognition Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Autism features and various degrees of cognitive deficit are reported in patients with PCDH-19 mutations and epilepsy.
|
27179713 |
2016 |
Pervasive Development Disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.
|
27179713 |
2016 |
Convulsive Seizures
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
To do this, ictal video-EEG recordings of 26 convulsive seizures in three girls with PCDH19-related epilepsy were analysed.
|
26898795 |
2016 |
Acute repetitive seizure
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The second seizure/cluster occurred after a longer latency in PCDH19-related epilepsy rather than in DS (10.1±13.6 vs 2.2±2.1months; p<0.05).
|
27371789 |
2016 |
Familial Epilepsies
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Underlying causes were identified in 15 children (65%) and included SCN1A-related Dravet syndrome (formerly severe myoclonic epilepsy of infancy) or genetic epilepsy with febrile seizures plus syndrome (n = 8 and n = 1, respectively), a protocadherin 19 mutation, a 1qter microdeletion, neuronal migration disorders (n = 2), and other monogenic familial epilepsy (n = 2).
|
25225143 |
2014 |
Alcoholic Intoxication, Chronic
|
0.010 |
Biomarker
|
disease |
BEFREE |
For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.
|
22765916 |
2012 |
Rett Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
No mutations were identified in the Rett syndrome and autism spectrum disorders cohorts suggesting that despite sharing similar clinical characteristics with EFMR, PCDH19 mutations are not generally associated with these disorders.
|
19752159 |
2010 |
Schizophrenia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.
|
30828795 |
2019 |
Congenital Abnormality
|
0.020 |
Biomarker
|
group |
BEFREE |
Furthermore, we identify variable cortical malformations in PCDH19 epilepsy patients.
|
29301106 |
2018 |
Congenital Abnormality
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
|
29064093 |
2018 |
Developmental delay (disorder)
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
Heterozygous de novo or inherited pathogenic variants in the PCDH19 gene cause a spectrum of neurodevelopmental features including developmental delay and seizures.
|
29933145 |
2018 |
Affective Symptoms
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Seizures with affective symptoms have been confirmed to be typical of PCDH19-related epilepsy.
|
27371789 |
2016 |
Affective Symptoms
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
Most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system.
|
22946748 |
2012 |
Schizophrenia
|
0.020 |
Biomarker
|
disease |
BEFREE |
For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.
|
22765916 |
2012 |
Febrile infection related epilepsy syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PCDH19, SCN1A, POLG, or CNVs are not responsible for FIRES.
|
23066759 |
2012 |
Familial (FPAH)
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
Febrile infection related epilepsy syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We believe that female patients with febrile acute-onset epilepsy resembling FIRES are potential PCDH19 mutation carriers.
|
21777234 |
2011 |