| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, Jacopo Pruccoli, Antonella Pini, Laura Licchetta, Francesca Bisulli, Claudio Graziano, Marco Ser. A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19. Molecular syndromology. vol 15. issue 2. 2024-04-08. PMID:38585543. |
a male child with infantile epilepsy due to a mosaic missense variant of pcdh19. |
2024-04-08 |
2024-04-10 |
Not clear |
| Safoura Kowkabi, Majid Yavarian, Reza Kaboodkhani, Mahmood Mohammadi, Reza Shervin Bad. PCDH19-clustering epilepsy, pathophysiology and clinical significance. Epilepsy & behavior : E&B. vol 154. 2024-03-23. PMID:38521028. |
pcdh19 clustering epilepsy (pcdh19-ce) is an x-linked epilepsy disorder associated with intellectual disability (id) and behavioral disturbances, which is caused by pcdh19 gene variants. |
2024-03-23 |
2024-03-26 |
Not clear |
| Safoura Kowkabi, Majid Yavarian, Reza Kaboodkhani, Mahmood Mohammadi, Reza Shervin Bad. PCDH19-clustering epilepsy, pathophysiology and clinical significance. Epilepsy & behavior : E&B. vol 154. 2024-03-23. PMID:38521028. |
pcdh19 pathogenic variant leads to epilepsy in heterozygous females, not in hemizygous males and the inheritance pattern is unusual. |
2024-03-23 |
2024-03-26 |
Not clear |
| Rebekah de Nys, Alison Gardner, Clare van Eyk, Stefka Mincheva-Tasheva, Paul Thomas, Rudrarup Bhattacharjee, Lachlan Jolly, Isabel Martinez-Garay, Ian W J Fox, Karthik Shantharam Kamath, Raman Kumar, Jozef Gec. Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway. Molecular psychiatry. 2024-03-07. PMID:38454084. |
clustering epilepsy (ce) is a neurological disorder caused by pathogenic variants of the protocadherin 19 (pcdh19) gene. |
2024-03-07 |
2024-03-10 |
mouse |
| Rebekah de Nys, Clare L van Eyk, Tarin Ritchie, Rikke S Møller, Ingrid E Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gec. Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy. Translational psychiatry. vol 14. issue 1. 2024-01-27. PMID:38280856. |
clustering epilepsy (ce) is an epileptic disorder with neurological comorbidities caused by heterozygous variants of the x chromosome gene protocadherin 19 (pcdh19). |
2024-01-27 |
2024-01-30 |
Not clear |
| Matteo Lenge, Simona Balestrini, Antonio Napolitano, Davide Mei, Valerio Conti, Giulia Baldassarri, Marina Trivisano, Simona Pellacani, Letizia Macconi, Daniela Longo, Maria Camilla Rossi Espagnet, Simona Cappelletti, Ludovico D'Incerti, Carmen Barba, Nicola Specchio, Renzo Guerrin. Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. Translational psychiatry. vol 14. issue 1. 2024-01-18. PMID:38238304. |
protocadherin-19 (pcdh19) developmental and epileptic encephalopathy causes an early-onset epilepsy syndrome with limbic seizures, typically occurring in clusters and variably associated with intellectual disability and a range of psychiatric disorders including hyperactive, obsessive-compulsive and autistic features. |
2024-01-18 |
2024-01-21 |
Not clear |
| Yi Chen, Aijie Liu, Xiaoli Zhang, Xiuwei Ma, Dan Sun, Xiaojuan Tian, Wenjuan Wu, Qi Zeng, Yuwu Jiang, Yuehua Zhan. Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China. Developmental medicine and child neurology. 2023-11-14. PMID:37960945. |
seizure course of pcdh19 clustering epilepsy in female children: a multicentre cohort study in china. |
2023-11-14 |
2023-11-20 |
Not clear |
| Yi Chen, Aijie Liu, Xiaoli Zhang, Xiuwei Ma, Dan Sun, Xiaojuan Tian, Wenjuan Wu, Qi Zeng, Yuwu Jiang, Yuehua Zhan. Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China. Developmental medicine and child neurology. 2023-11-14. PMID:37960945. |
to investigate the seizure course of pcdh19 clustering epilepsy (pcdh19-ce) in a cohort of female children in china. |
2023-11-14 |
2023-11-20 |
Not clear |
| Roxanne Simmons, Nilika Singhal, Joseph Sullivan, Tina Shih, Tarik Tihan, Annapurna Poduri, Lacey Smith, Edward Yan. Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy. Epilepsy & behavior : E&B. vol 149. 2023-11-13. PMID:37956604. |
pcdh19 is a common epilepsy gene causing medication resistant epilepsy with fever-related seizures. |
2023-11-13 |
2023-11-20 |
Not clear |
| Diana Alaverdian, Anna Margherita Corradi, Bruno Sterlini, Fabio Benfenati, Luca Murru, Maria Passafaro, Jlenia Brunetti, Ilaria Meloni, Francesca Mari, Alessandra Renieri, Elisa Frullant. Modelling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells. Epileptic disorders : international epilepsy journal with videotape. 2023-05-15. PMID:37186408. |
modelling pcdh19 clustering epilepsy by neurogenin 2 induction of patient-derived induced pluripotent stem cells. |
2023-05-15 |
2023-08-14 |
Not clear |
| Joseph Sullivan, Boudewijn Gunning, Muhammad Zafar, Renzo Guerrini, Jozef Gecz, Kristy L Kolc, Yufan Zhao, Maciej Gasior, Alex A Aimetti, Debopam Samant. Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy. Epilepsy research. vol 191. 2023-03-04. PMID:36870093. |
protocadherin-19 (pcdh19)-clustering epilepsy is a distinct developmental and epileptic encephalopathy characterized by early-onset seizures that are often treatment refractory. |
2023-03-04 |
2023-08-14 |
Not clear |
| Joseph Sullivan, Boudewijn Gunning, Muhammad Zafar, Renzo Guerrini, Jozef Gecz, Kristy L Kolc, Yufan Zhao, Maciej Gasior, Alex A Aimetti, Debopam Samant. Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy. Epilepsy research. vol 191. 2023-03-04. PMID:36870093. |
caused by a mutation of the pcdh19 gene on the x chromosome, this rare epilepsy syndrome primarily affects females with seizure onset commonly in the first year of life. |
2023-03-04 |
2023-08-14 |
Not clear |
| Anna Pancho, Manuela D Mitsogiannis, Tania Aerts, Marco Dalla Vecchia, Lena K Ebert, Lieve Geenen, Lut Noterdaeme, Ria Vanlaer, Anne Stulens, Paco Hulpiau, Katrien Staes, Frans Van Roy, Peter Dedecker, Bernhard Schermer, Eve Seuntjen. Modifying PCDH19 levels affects cortical interneuron migration. Frontiers in neuroscience. vol 16. 2022-11-17. PMID:36389226. |
as epilepsy can also be caused by impaired interneuron migration, we studied the role of pcdh19 in cortical interneurons during embryogenesis. |
2022-11-17 |
2023-08-14 |
Not clear |
| Juan A Moncayo, Maite N Vargas, Isabel Castillo, Pablo V Granda, Andrea M Duque, Jennifer M Argudo, Sakina Matcheswalla, Guillermo E Lopez Dominguez, Gustavo Monteros, Andres F Andrade, Diego Ojeda, Mario Yepe. Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome. Cureus. vol 14. issue 7. 2022-08-25. PMID:36004035. |
stiripentol was given as adjuvant therapy in a patient with pcdh19 epilepsy resulting in the most extended period of seizure-free episodes, but more studies must be performed to assess its efficacy. |
2022-08-25 |
2023-08-14 |
Not clear |
| Giovanni Battista Dell'Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera, Valentina Imperatore, Giuseppe Di Cara, Pasquale Striano, Alberto Verrott. Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations. BMC medical genomics. vol 15. issue 1. 2022-08-17. PMID:35978409. |
pcdh19-related epilepsy is a rare x-linked type of epilepsy caused by genomic variants of the protocadherin 19 (pcdh19) gene. |
2022-08-17 |
2023-08-14 |
Not clear |
| Juan A Moncayo, Ivan N Ayala, Jennifer M Argudo, Alex S Aguirre, Jashank Parwani, Ana Pachano, Diego Ojeda, Steven Cordova, Maria Gracia Mora, Christiany M Tapia, Juan Fernando Orti. Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology. Cureus. vol 14. issue 6. 2022-07-13. PMID:35822151. |
pcdh19 syndrome is a monogenic epilepsy related to the protein protocadherin-19 (pcdh19) gene, which encodes for a protein important for brain development. |
2022-07-13 |
2023-08-14 |
Not clear |
| Didi Lamers, Silvia Landi, Roberta Mezzena, Laura Baroncelli, Vinoshene Pillai, Federica Cruciani, Sara Migliarini, Sara Mazzoleni, Massimo Pasqualetti, Maria Passafaro, Silvia Bassani, Gian Michele Ratt. Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder. Cells. vol 11. issue 12. 2022-06-24. PMID:35741068. |
pcdh19 epilepsy (dee9) is an x-linked syndrome associated with cognitive and behavioral disturbances. |
2022-06-24 |
2023-08-14 |
mouse |
| Laura Gerosa, Sara Mazzoleni, Francesco Rusconi, Alessandra Longaretti, Elly Lewerissa, Silvia Pelucchi, Luca Murru, Serena Gea Giannelli, Vania Broccoli, Elena Marcello, Nael Nadif Kasri, Elena Battaglioli, Maria Passafaro, Silvia Bassan. The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes. Cell reports. vol 39. issue 8. 2022-05-25. PMID:35613587. |
protocadherin-19 (pcdh19) is a synaptic cell-adhesion molecule encoded by x-linked pcdh19, a gene linked with epilepsy. |
2022-05-25 |
2023-08-13 |
Not clear |
| Barbara K Robens, Xinzhu Yang, Christopher M McGraw, Laura H Turner, Carsten Robens, Summer Thyme, Alexander Rotenberg, Annapurna Podur. Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish. Neurobiology of disease. 2022-04-23. PMID:35460869. |
the x-linked gene pcdh19 is associated with sporadic and familial epilepsy in humans, typically with early-onset clustering seizures and intellectual disability in females but not in so-called 'carrier' males, suggesting that mosaic pcdh19 expression is required to produce epilepsy. |
2022-04-23 |
2023-08-13 |
zebrafish |
| Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M McKhann, James E Goldman, Peter Canoll, Allyson L Alexander, Kristen L Park, Gretchen K Von Allmen, Olga Rodziyevska, Meenakshi B Bhattacharjee, Hart G W Lidov, Hannes Vogel, Gerald A Grant, Brenda E Porter, Annapurna H Poduri, Peter B Crino, Erin L Heinze. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain : a journal of neurology. 2022-04-20. PMID:35441233. |
we also identified a somatic loss-of-function variant in the known epilepsy gene, pcdh19, present in a small number of alleles in the dysplastic tissue from a female patient with focal cortical dysplasia iiia with hippocampal sclerosis. |
2022-04-20 |
2023-08-13 |
Not clear |