HuGE Literature Finder
Records 1-11
|
Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel.
Journal of human genetics 2019 Aug . Hirabayashi Kyoko, Uehara Daniela Tiaki, Abe Hidetoshi, Ishii Atsushi, Moriyama Keiji, Hirose Shinichi, Inazawa Joh |
|
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.
Molecular psychiatry 2018 Jun . Kolc Kristy L, Sadleir Lynette G, Scheffer Ingrid E, Ivancevic Atma, Roberts Rachel, Pham Duyen H, Gecz Joz |
|
The Clinical Spectrum of Female Epilepsy Patients with PCDH19 Mutations in a Chinese Population.
Clinical genetics 2016 Aug . Liu Aijie, Xu Xiaojing, Yang Xiaoling, Jiang Yuwu, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
|
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.
Pediatric neurology 2016 Jul . Segal Eric, Pedro Helio, Valdez-Gonzalez Karen, Parisotto Sarah, Gliksman Felicia, Thompson Stephen, Sabri Jomard, Fertig Ev |
|
PCDH19-related epilepsy in two mosaic male patients.
Epilepsia 2016 Jan . Terracciano Alessandra, Trivisano Marina, Cusmai Raffaella, De Palma Luca, Fusco Lucia, Compagnucci Claudia, Bertini Enrico, Vigevano Federico, Specchio Nico |
|
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.
PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
|
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.
Developmental medicine and child neurology 2012 Dec 54 (12): 1144-8. Appenzeller Silke, Helbig Ingo, Stephani Ulrich, Häusler Martin, Kluger Gerhard, Bungeroth May, Müller Stefanie, Kuhlenbäumer Gregor, van Baalen Andre |
|
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Epilepsia 2011 Jul 52 (7): 1251-7. Specchio Nicola, Marini Carla, Terracciano Alessandra, Mei Davide, Trivisano Marina, Sicca Federico, Fusco Lucia, Cusmai Raffaella, Darra Francesca, Bernardina Bernardo Dalla, Bertini Enrico, Guerrini Renzo, Vigevano Federi |
|
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Human mutation 2011 Jan 32 (1): E1959-75. Depienne Christel, Trouillard Oriane, Bouteiller Delphine, Gourfinkel-An Isabelle, Poirier Karine, Rivier François, Berquin Patrick, Nabbout Rima, Chaigne Denys, Steschenko Dominique, Gautier Agnès, Hoffman-Zacharska Dorota, Lannuzel Annie, Lackmy-Port-Lis Marilyn, Maurey Hélène, Dusser Anne, Bru Marie, Gilbert-Dussardier Brigitte, Roubertie Agathe, Kaminska Anna, Whalen Sandra, Mignot Cyril, Baulac Stéphanie, Lesca Gaetan, Arzimanoglou Alexis, LeGuern Er |
|
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Neurology 2010 Aug 75 (7): 646-53. Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini |
|
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Journal of medical genetics 2010 Mar 47 (3): 211-6. Hynes Kim, Tarpey Patrick, Dibbens Leanne M, Bayly Marta A, Berkovic Samuel F, Smith Raffaella, Raisi Zahyia Al, Turner Samantha J, Brown Natasha J, Desai Tarishi D, Haan Eric, Turner Gillian, Christodoulou John, Leonard Helen, Gill Deepak, Stratton Michael R, Gecz Jozef, Scheffer Ingrid |
- Page last reviewed:Oct 1, 2020
- Page last updated:Apr 08, 2021
- Content source: