Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Seizures and PCDH19[original query] |
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| 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 |
| Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS genetics 2009 Feb 5 (2): e1000381. Depienne Christel, Bouteiller Delphine, Keren Boris, Cheuret Emmanuel, Poirier Karine, Trouillard Oriane, Benyahia Baya, Quelin Chloé, Carpentier Wassila, Julia Sophie, Afenjar Alexandra, Gautier Agnès, Rivier François, Meyer Sophie, Berquin Patrick, Hélias Marie, Py Isabelle, Rivera Serge, Bahi-Buisson Nadia, Gourfinkel-An Isabelle, Cazeneuve Cécile, Ruberg Merle, Brice Alexis, Nabbout Rima, 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. Developmental medicine and child neurology 2017 10 60 (1): 100-105. Kurian Mary, Korff Christian M, Ranza Emmanuelle, Bernasconi Andrea, Lübbig Anja, Nangia Srishti, Ramelli Gian Paolo, Wohlrab Gabriele, Nordli Douglas R, Bast Thom |
| Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
| 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 |
| PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia 2018 1 59 (3): 679-689. Smith Lacey, Singhal Nilika, El Achkar Christelle M, Truglio Gessica, Rosen Sheidley Beth, Sullivan Joseph, Poduri Annapur |
| 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 |
| Tiered analysis of whole-exome sequencing for epilepsy diagnosis. Molecular genetics and genomics : MGG 2020 3 295 (3): 751-763. Dunn Paul J, Maher Bridget H, Albury Cassie L, Stuart Shani, Sutherland Heidi G, Maksemous Neven, Benton Miles C, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
| [Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2020 2 120 (1): 55-61. Dadali E L, Mishina I A, Borovikov A O, Sharkov A A, Kanivets I |
| X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family. Clinica chimica acta; international journal of clinical chemistry 2021 7 521 285-288. Hung Ling-Yin, Subramaniam Shreenidhi Ranganatha, Tong Tsz-Yan Tammy, Chan Wing-Ki, Yau Eric Kin-Cheong, Ching Chor-Kw |
| Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures. Scientific reports 2022 Jun 12 (1): 10187. Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw |
| Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China. Seizure 2024 8 121 95-104. Weixing Feng, Zihan Wang, Xiaohui Wang, Shuhua Chen, Xiaoyi Chen, Chunhong Chen, Jie Deng, Xiuwei Zhuo, Jing Wa |
| A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19. Molecular syndromology 2024 4 15 (2): 114-118. Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, Jacopo Pruccoli, Antonella Pini, Laura Licchetta, Francesca Bisulli, Claudio Graziano, Marco Se |
| Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
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