| Reference |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 issue 2023 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 |
2023-03-06 |
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 issue 2023 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 |
2023-03-06 |
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 issue 2022 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 |
2023-01-30 |
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 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 |
2023-01-30 |
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 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 |
2023-01-30 |
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 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 |
2023-01-27 |
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 35741068 |
pcdh19 epilepsy (dee9) is an x-linked syndrome associated with cognitive and behavioral disturbances. |
2022-06-24 |
2023-01-27 |
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 35613587 |
protocadherin-19 (pcdh19) is a synaptic cell-adhesion molecule encoded by x-linked pcdh19, a gene linked with epilepsy. |
2022-05-25 |
2023-01-27 |
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 vol issue 2022 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 |
2023-01-27 |
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 vol issue 2022 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 |
2023-01-27 |
Not clear |
| 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 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 |
2023-01-27 |
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 issue 2022 35111125 |
protocadherin 19 (pcdh19) gene is one of the most common genes involved in epilepsy syndromes. |
2022-02-03 |
2023-01-27 |
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 issue 2022 35111125 |
according to literature data pcdh19 is among the 6 genes most involved in genetic epilepsies. |
2022-02-03 |
2023-01-27 |
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 issue 2022 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 |
2023-01-27 |
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 issue 2022 35111125 |
this review aims to analyze the highly variable phenotypic expression of pcdh19 gene mutation associated with epilepsy. |
2022-02-03 |
2023-01-27 |
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 33937968 |
in addition, it was noticed a significant predisposition to hyperthermia during epilepsy crisis in individuals carrying pcdh19 variants (p-value\xe2\x80\x89=\xe2\x80\x890.003; p-value corrected\xe2\x80\x89=\xe2\x80\x890.027). |
2021-12-03 |
2023-01-26 |
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 33411240 |
pcdh19-clustering epilepsy (pcdh19-ce) is an infantile onset disorder caused by mutation of the x-linked pcdh19 gene. |
2021-11-19 |
2023-01-26 |
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 34520737 |
mutations in protocadherin-19 (pcdh19), a member of the \xce\xb4-protocadherin subfamily of cadherins, cause a unique form of epilepsy called pcdh19 clustering epilepsy. |
2021-10-11 |
2023-01-26 |
zebrafish |
| Viviana Venegas Silva, Elisa Garc\\xc3\\xada 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 33399642 |
pathogenic variant in the pcdh19 gene in a patient with epilepsy and cognitive disability. |
2021-10-04 |
2023-01-26 |
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 33262389 |
comparative characterization of pcdh19 missense and truncating variants in pcdh19-related epilepsy. |
2021-09-02 |
2023-01-26 |
Not clear |