| Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. | Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
Lenge M, Balestrini S, Napolitano A, Mei D, Conti V, Baldassarri G, Trivisano M, Pellacani S, Macconi L, Longo D, Rossi Espagnet MC, Cappelletti S, PCDH19 Clinical Study Group, D'Incerti L, Barba C, Specchio N, Guerrini R., Free PMC Article | 02/1/2024 |
| PCDH19 in Males: Are Hemizygous Variants Linked to Autism? | PCDH19 in Males: Are Hemizygous Variants Linked to Autism?
Chouery E, Makhlouf J, Daoud Khatoun W, Mehawej C, Megarbane A., Free PMC Article | 04/14/2023 |
| Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations. | Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.
Dell'Isola GB, Mencaroni E, Fattorusso A, Tascini G, Prontera P, Imperatore V, Di Cara G, Striano P, Verrotti A., Free PMC Article | 10/22/2022 |
| Cadherins and the pathogenesis of epilepsy. | Cadherins and the pathogenesis of epilepsy.
Yang C, Shi Y, Li X, Guan L, Li H, Lin J. | 06/18/2022 |
| The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes. | The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.
Gerosa L, Mazzoleni S, Rusconi F, Longaretti A, Lewerissa E, Pelucchi S, Murru L, Giannelli SG, Broccoli V, Marcello E, Kasri NN, Battaglioli E, Passafaro M, Bassani S., Free PMC Article | 06/11/2022 |
| A complete Protocadherin-19 ectodomain model for evaluating epilepsy-causing mutations and potential protein interaction sites. | A complete Protocadherin-19 ectodomain model for evaluating epilepsy-causing mutations and potential protein interaction sites.
Hudson JD, Tamilselvan E, Sotomayor M, Cooper SR. | 03/19/2022 |
| Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants. | Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
Rampazzo ACM, Dos Santos RRP, Maluf FA, Simm RF, Marson FAL, Ortega MM, de Aguiar PHP. | 01/15/2022 |
| X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family. | X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family.
Hung LY, Subramaniam SR, Tong TT, Chan WK, Yau EK, Ching CK. | 09/11/2021 |
| Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy. | Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M, Ishii A, Goto A, Hirose S., Free PMC Article | 09/4/2021 |
| A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. | A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J., Free PMC Article | 07/31/2021 |
| A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome. | A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.
Zhao X, Wang Y, Mei S, Kong X., Free PMC Article | 04/17/2021 |
| Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report. | Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
Kozina AA, Okuneva EG, Baryshnikova NV, Fedonyuk ID, Kholin AA, Il'ina ES, Krasnenko AY, Stetsenko IF, Plotnikov NA, Klimchuk OI, Surkova EI, Ilinsky VV., Free PMC Article | 01/9/2021 |
| PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum. | PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.
Kolc KL, Møller RS, Sadleir LG, Scheffer IE, Kumar R, Gecz J. | 11/21/2020 |
| We reviewed literature on PCDH19-GCE, in order to define prevalence, semiology, treatments, and outcome of status epilepticus--{REVIEW} | The role of PCDH19 in refractory status epilepticus.
Trivisano M, Specchio N. | 08/12/2020 |
| based on study of the clinical and genetic characteristics of patients, it was concluded that the so-called 'hot spots' are present in the PCDH19 gene, which are more common in the group of patients with mutations in PCDH19 gene, and that the clinical picture of early infantile epileptic encephalopathy type 9 is variable | [Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)].
Dadali EL, Mishina IA, Borovikov AO, Sharkov AA, Kanivets IV. | 06/13/2020 |
| Mosaic PCDH19 mutations in Chinese patients with epilepsy. | Mosaicism and incomplete penetrance of PCDH19 mutations.
Liu A, Yang X, Yang X, Wu Q, Zhang J, Sun D, Yang Z, Jiang Y, Wu X, Wei L, Zhang Y., Free PMC Article | 05/23/2020 |
| novel pathogenic variants in the PCDH19 gene, were reviewed. | A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R, Fanning EA, Depienne C, Sarmady M, Abou Tayoun AN. | 03/28/2020 |
| PCDH19 mutations were associated with psychiatric comorbidities in approximately 60% of females, 80% of affected mosaic males, and reported in nine hemizygous males. | A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.
Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J., Free PMC Article | 01/11/2020 |
| Loss of PCDH19 function caused increased neurogenesis and is associated with a loss of neural stem cell and progenitor cell polarity. | PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.
Homan CC, Pederson S, To TH, Tan C, Piltz S, Corbett MA, Wolvetang E, Thomas PQ, Jolly LA, Gecz J. | 09/7/2019 |
| In humans, mutations in the PCDH19 gene, that encodes protocadherin-19 (PCDH19) protein, cause early infantile epileptic encephalopathy-9 associated with intellectual disability and autistic features. | The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy-9 (EIEE9).
Gerosa L, Francolini M, Bassani S, Passafaro M. | 08/3/2019 |
| Our results highlight the role of PCDH19 in determining cell adhesion affinities during cortical development | Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ. | 07/6/2019 |
| Low PCDH19 expression due to hypermethylation is associated with hepatocellular carcinoma. | Methylation of PCDH19 predicts poor prognosis of hepatocellular carcinoma.
Zhang T, Guan G, Chen T, Jin J, Zhang L, Yao M, Qi X, Zou J, Chen J, Lu F, Chen X. | 05/18/2019 |
| The aim of this study was to analyze a large cohort of patients with PCDH19-related epilepsy | Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N. | 04/27/2019 |
| PCDH19 mutation is associated with early infantile epileptic encephalopathy. | Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
Tan Y, Hou M, Ma S, Liu P, Xia S, Wang Y, Chen L, Chen Z., Free PMC Article | 02/23/2019 |
| we have added to the characterization of PCDH19-related epilepsy. In addition to epilepsy, affected individuals display a complex neuropsychiatric syndrome in which the behavioral and sleep dysregulation are prominent. | PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Smith L, Singhal N, El Achkar CM, Truglio G, Rosen Sheidley B, Sullivan J, Poduri A., Free PMC Article | 11/3/2018 |