PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE The periodicity of cluster seizures mimicking that of PCDH19-related epilepsy may characterize SMC1A-related encephalopathy. 31185419 2019
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. 29064093 2018
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE Reduced steroidogenesis in patients with PCDH19-female limited epilepsy. 28471529 2017
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. 27527380 2017
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Eight females aged 5 to 17years old with PCDH-19 mutations and epilepsy were recruited. 27179713 2016
CUI: C0014544
Disease: Epilepsy
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
CUI: C0014544
Disease: Epilepsy
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