| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rossella Borghi, Valentina Magliocca, Marina Trivisano, Nicola Specchio, Marco Tartaglia, Enrico Bertini, Claudia Compagnucc. Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids. International journal of molecular sciences. vol 23. issue 7. 2022-04-12. PMID:35408865. |
pcdh19 clustering epilepsy (pcdh19-ce) is a genetic disease characterized by a heterogeneous phenotypic spectrum ranging from focal epilepsy with rare seizures and normal cognitive development to severe drug-resistant epilepsy associated with intellectual disability and autism. |
2022-04-12 |
2023-08-13 |
human |
| Giovanni Battista Dell'Isola, Valerio Vinti, Antonella Fattorusso, Giorgia Tascini, Elisabetta Mencaroni, Giuseppe Di Cara, Pasquale Striano, Alberto Verrott. The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation. Frontiers in neurology. vol 12. 2022-02-03. PMID:35111125. |
protocadherin 19 (pcdh19) gene is one of the most common genes involved in epilepsy syndromes. |
2022-02-03 |
2023-08-13 |
Not clear |
| Giovanni Battista Dell'Isola, Valerio Vinti, Antonella Fattorusso, Giorgia Tascini, Elisabetta Mencaroni, Giuseppe Di Cara, Pasquale Striano, Alberto Verrott. The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation. Frontiers in neurology. vol 12. 2022-02-03. PMID:35111125. |
according to literature data pcdh19 is among the 6 genes most involved in genetic epilepsies. |
2022-02-03 |
2023-08-13 |
Not clear |
| Giovanni Battista Dell'Isola, Valerio Vinti, Antonella Fattorusso, Giorgia Tascini, Elisabetta Mencaroni, Giuseppe Di Cara, Pasquale Striano, Alberto Verrott. The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation. Frontiers in neurology. vol 12. 2022-02-03. PMID:35111125. |
the most frequent clinical expression of pcdh19 mutation is epilepsy and mental retardation limited to female (efmr) characterized by epileptic and non-epileptic symptoms affecting mainly females. |
2022-02-03 |
2023-08-13 |
Not clear |
| Giovanni Battista Dell'Isola, Valerio Vinti, Antonella Fattorusso, Giorgia Tascini, Elisabetta Mencaroni, Giuseppe Di Cara, Pasquale Striano, Alberto Verrott. The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation. Frontiers in neurology. vol 12. 2022-02-03. PMID:35111125. |
this review aims to analyze the highly variable phenotypic expression of pcdh19 gene mutation associated with epilepsy. |
2022-02-03 |
2023-08-13 |
Not clear |
| Ana Carla Mondek Rampazzo, Rafael Rodrigues Pinheiro Dos Santos, Fernando Arfux Maluf, Renata Faria Simm, Fernando Augusto Lima Marson, Manoela Marques Ortega, Paulo Henrique Pires de Aguia. Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants. Neurogenetics. vol 22. issue 2. 2021-12-03. PMID:33937968. |
in addition, it was noticed a significant predisposition to hyperthermia during epilepsy crisis in individuals carrying pcdh19 variants (p-value = 0.003; p-value corrected = 0.027). |
2021-12-03 |
2023-08-13 |
Not clear |
| Stefka Mincheva-Tasheva, Alvaro F Nieto Guil, Claire C Homan, Jozef Gecz, Paul Q Thoma. Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE). Molecular neurobiology. vol 58. issue 5. 2021-11-19. PMID:33411240. |
pcdh19-clustering epilepsy (pcdh19-ce) is an infantile onset disorder caused by mutation of the x-linked pcdh19 gene. |
2021-11-19 |
2023-08-13 |
mouse |
| Jonathan D Hudson, Elakkiya Tamilselvan, Marcos Sotomayor, Sharon R Coope. A complete Protocadherin-19 ectodomain model for evaluating epilepsy-causing mutations and potential protein interaction sites. Structure (London, England : 1993). vol 29. issue 10. 2021-10-11. PMID:34520737. |
mutations in protocadherin-19 (pcdh19), a member of the δ-protocadherin subfamily of cadherins, cause a unique form of epilepsy called pcdh19 clustering epilepsy. |
2021-10-11 |
2023-08-13 |
zebrafish |
| Viviana Venegas Silva, Elisa García Venegas, M Gabriela Repetto Lisboa, Eva Barroso Ramos, Pablo Lapunzina Badi. Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability. Revista chilena de pediatria. vol 91. issue 5. 2021-10-04. PMID:33399642. |
pathogenic variant in the pcdh19 gene in a patient with epilepsy and cognitive disability. |
2021-10-04 |
2023-08-13 |
Not clear |
| Mami Shibata, Atsushi Ishii, Ayako Goto, Shinichi Hiros. Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy. Journal of human genetics. vol 66. issue 6. 2021-09-02. PMID:33262389. |
comparative characterization of pcdh19 missense and truncating variants in pcdh19-related epilepsy. |
2021-09-02 |
2023-08-13 |
Not clear |
| Mami Shibata, Atsushi Ishii, Ayako Goto, Shinichi Hiros. Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy. Journal of human genetics. vol 66. issue 6. 2021-09-02. PMID:33262389. |
missense and truncating variants in protocadherin 19 (pcdh19) cause pcdh19-related epilepsy. |
2021-09-02 |
2023-08-13 |
Not clear |
| Duyen H Pham, Melissa R Pitman, Raman Kumar, Lachlan A Jolly, Renee Schulz, Alison E Gardner, Rebekah de Nys, Sarah E Heron, Mark A Corbett, Kavitha Kothur, Deepak Gill, Sulekha Rajagopalan, Kristy L Kolc, Benjamin J Halliday, Stephen P Robertson, Brigid M Regan, Heidi E Kirsch, Samuel F Berkovic, Ingrid E Scheffer, Stuart M Pitson, Slave Petrovski, Jozef Gec. Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. Human mutation. vol 42. issue 8. 2021-07-22. PMID:34082468. |
pathogenic variants in pcdh19 cause infantile-onset epilepsy known as pcdh19-clustering epilepsy or pcdh19-ce. |
2021-07-22 |
2023-08-13 |
Not clear |
| Rossella Borghi, Valentina Magliocca, Stefania Petrini, Libenzio Adrian Conti, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucc. Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis. Journal of clinical medicine. vol 10. issue 13. 2021-07-11. PMID:34201522. |
dissecting the role of pcdh19 in clustering epilepsy by exploiting patient-specific models of neurogenesis. |
2021-07-11 |
2023-08-13 |
Not clear |
| Rossella Borghi, Valentina Magliocca, Stefania Petrini, Libenzio Adrian Conti, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucc. Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis. Journal of clinical medicine. vol 10. issue 13. 2021-07-11. PMID:34201522. |
pcdh19-related epilepsy is a rare genetic disease caused by defective function of pcdh19, a calcium-dependent cell-cell adhesion protein of the cadherin superfamily. |
2021-07-11 |
2023-08-13 |
Not clear |
| Jozef Gecz, Paul Q Thoma. Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics. Current opinion in genetics & development. vol 65. 2021-07-01. PMID:32726744. |
pcdh19 clustering epilepsy (ce) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritance. |
2021-07-01 |
2023-08-13 |
mouse |
| Kristy L Kolc, Lynette G Sadleir, Christel Depienne, Carla Marini, Ingrid E Scheffer, Rikke S Møller, Marina Trivisano, Nicola Specchio, Duyen Pham, Raman Kumar, Rachel Roberts, Jozef Gec. A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. Translational psychiatry. vol 10. issue 1. 2021-06-18. PMID:32366910. |
a standardized patient-centered characterization of the phenotypic spectrum of pcdh19 girls clustering epilepsy. |
2021-06-18 |
2023-08-13 |
Not clear |
| Kristy L Kolc, Lynette G Sadleir, Christel Depienne, Carla Marini, Ingrid E Scheffer, Rikke S Møller, Marina Trivisano, Nicola Specchio, Duyen Pham, Raman Kumar, Rachel Roberts, Jozef Gec. A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. Translational psychiatry. vol 10. issue 1. 2021-06-18. PMID:32366910. |
protocadherin-19 (pcdh19) pathogenic variants cause an early-onset seizure disorder called girls clustering epilepsy (gce). |
2021-06-18 |
2023-08-13 |
Not clear |
| Michelle R Emond, Sayantanee Biswas, Matthew L Morrow, James D Jonte. Proximity-dependent Proteomics Reveals Extensive Interactions of Protocadherin-19 with Regulators of Rho GTPases and the Microtubule Cytoskeleton. Neuroscience. vol 452. 2021-05-14. PMID:33010346. |
mutations in human protocadherin-19 (pcdh19) lead to pcdh19 female-limited epilepsy (pcdh19 fle) in humans, characterized by the early onset of epileptic seizures in children and a range of cognitive and behavioral problems in adults. |
2021-05-14 |
2023-08-13 |
human |
| Xuechao Zhao, Yanhong Wang, Shiyue Mei, Xiangdong Kon. 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. Molecular genetics & genomic medicine. vol 8. issue 6. 2021-04-13. PMID:32314541. |
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. |
2021-04-13 |
2023-08-13 |
Not clear |
| Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il'ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsk. Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report. BMC medical genetics. vol 21. issue 1. 2021-01-08. PMID:33087045. |
two novel pcdh19 mutations in russian patients with epilepsy with intellectual disability limited to females: a case report. |
2021-01-08 |
2023-08-13 |
Not clear |