Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 33 Records) |
Query Trace: PCDH19[original query] |
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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 |
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 |
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 |
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 |
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 |
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel. Frontiers in neurology 2018 7 9 515. Tsai Meng-Han, Chan Chung-Kin, Chang Ying-Chao, Lin Chih-Hsiang, Liou Chia-Wei, Chang Wen-Neng, Ng Ching-Ching, Lim Kheng-Seang, Hwang Daw-Ya |
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 |
Mosaicism and incomplete penetrance of PCDH19 mutations. Journal of medical genetics 2018 10 56 (2): 81-88. Liu Aijie, Yang Xiaoxu, Yang Xiaoling, Wu Qixi, Zhang Jing, Sun Dan, Yang Zhixian, Jiang Yuwu, Wu Xiru, Wei Liping, Zhang Yueh |
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 |
Somatic mosaic deletions involving SCN1A cause Dravet syndrome. American journal of medical genetics. Part A 2018 1 176 (3): 657-662. Nakayama Tojo, Ishii Atsushi, Yoshida Takeshi, Nasu Hirosato, Shimojima Keiko, Yamamoto Toshiyuki, Kure Shigeo, Hirose Shinic |
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 |
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
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 |
Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing. Annals of clinical and laboratory science 2020 10 50 (5): 625-637. Lee Jiwon, Lee Chung, Park Woong-Yang, Lee Jeeh |
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 |
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants. Neurogenetics 2021 5 22 (2): 105-115. Rampazzo Ana Carla Mondek, Dos Santos Rafael Rodrigues Pinheiro, Maluf Fernando Arfux, Simm Renata Faria, Marson Fernando Augusto Lima, Ortega Manoela Marques, de Aguiar Paulo Henrique Pir |
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 |
Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology. Frontiers in pediatrics 2022 4 10 842666. Wang Jun, Zhang Jie, Yang Ying, Gao Kai, Wu Ye, Zhang Yuehua, Jiang Yu |
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain : a journal of neurology 2022 4 145 (8): 2704-2720. Lai Dulcie, Gade Meethila, Yang Edward, Koh Hyun Yong, Lu Jinfeng, Walley Nicole M, Buckley Anne F, Sands Tristan T, Akman Cigdem I, Mikati Mohamad A, McKhann Guy M, Goldman James E, Canoll Peter, Alexander Allyson L, Park Kristen L, Von Allmen Gretchen K, Rodziyevska Olga, Bhattacharjee Meenakshi B, Lidov Hart G W, Vogel Hannes, Grant Gerald A, Porter Brenda E, Poduri Annapurna H, Crino Peter B, Heinzen Erin |
Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability. Molecular neurobiology 2023 4 . Mirgul Bayanova, Aidos K Bolatov, Assiya Bazenova, Lyazzat Nazarova, Alissa Nauryzbayeva, Naanlep Matthew Tanko, Saule Rakhimova, Nazerke Satvaldina, Diana Samakyzy, Ulan Kozhamkulov, Ulykbek Kairov, Ainur Akilzhanova, Dos Sarbass |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy. Frontiers in neurology 2023 3 14 1107904. Zhou Wenjuan, Ouyang Yuzhen, Ji Yuqiao, Xi Qiong, Zhao Lingli |
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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- Page last updated:Apr 16, 2024
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