Human Genome Epidemiology Literature Finder
|
Records 1 - 23 (of 23 Records) |
| Query Trace: Epilepsy and STXBP1[original query] |
|---|
| De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Annals of neurology 2009 Jun 65 (6): 748-53. Hamdan Fadi F, Piton Amélie, Gauthier Julie, Lortie Anne, Dubeau François, Dobrzeniecka Sylvia, Spiegelman Dan, Noreau Anne, Pellerin Stéphanie, Côté Mélanie, Henrion Edouard, Fombonne Eric, Mottron Laurent, Marineau Claude, Drapeau Pierre, Lafrenière Ronald G, Lacaille Jean Claude, Rouleau Guy A, Michaud Jacques |
| STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia 2011 1 51 (12): 2449-52. Otsuka Motoko, Oguni Hirokazu, Liang Jao-Shwann, Ikeda Hiroko, Imai Katsumi, Hirasawa Kyoko, Imai Kaoru, Tachikawa Emiko, Shimojima Keiko, Osawa Makiko, Yamamoto Toshiyu |
| Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012 Aug 53 (8): 1387-98. Lemke Johannes R, Riesch Erik, Scheurenbrand Tim, Schubach Max, Wilhelm Christian, Steiner Isabelle, Hansen Jörg, Courage Carolina, Gallati Sabina, Bürki Sarah, Strozzi Susi, Simonetti Barbara Goeggel, Grunt Sebastian, Steinlin Maja, Alber Michael, Wolff Markus, Klopstock Thomas, Prott Eva C, Lorenz Rüdiger, Spaich Christiane, Rona Sabine, Lakshminarasimhan Maya, Kröll Judith, Dorn Thomas, Krämer Günter, Synofzik Matthis, Becker Felicitas, Weber Yvonne G, Lerche Holger, Böhm Detlef, Biskup Sask |
| Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia 2013 May 54 (5): e74-80. Weckhuysen Sarah, Holmgren Philip, Hendrickx Rik, Jansen Anna C, Hasaerts Daniele, Dielman Charlotte, de Bellescize Julitta, Boutry-Kryza Nadia, Lesca Gaetan, Von Spiczak Sarah, Helbig Ingo, Gill Deepak, Yendle Simone, Møller Rikke S, Klitten Laura, Korff Christian, Godfraind Catherine, Van Rijckevorsel Kenou, De Jonghe Peter, Hjalgrim Helle, Scheffer Ingrid E, Suls Arv |
| Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
| 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 |
| Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25. Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur |
| Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia 2016 Feb . Yamashita Satoshi, Chiyonobu Tomohiro, Yoshida Michiko, Maeda Hiroshi, Zuiki Masashi, Kidowaki Satoshi, Isoda Kenichi, Morimoto Masafumi, Kato Mitsuhiro, Saitsu Hirotomo, Matsumoto Naomichi, Nakahata Tatsutoshi, Saito Megumu K, Hosoi Haji |
| Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular syndromology 2016 Sep 7 (4): 210-219. Møller Rikke S, Larsen Line H G, Johannesen Katrine M, Talvik Inga, Talvik Tiina, Vaher Ulvi, Miranda Maria J, Farooq Muhammad, Nielsen Jens E K, Svendsen Lene Lavard, Kjelgaard Ditte B, Linnet Karen M, Hao Qin, Uldall Peter, Frangu Mimoza, Tommerup Niels, Baig Shahid M, Abdullah Uzma, Born Alfred P, Gellert Pia, Nikanorova Marina, Olofsson Kern, Jepsen Birgit, Marjanovic Dragan, Al-Zehhawi Lana I K, Peñalva Sofia J, Krag-Olsen Bente, Brusgaard Klaus, Hjalgrim Helle, Rubboli Guido, Pal Deb K, Dahl Hans |
| Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Molecular genetics & genomic medicine 2017 Sep 5 (5): 495-507. Suri Mohnish, Evers Jochem M G, Laskowski Roman A, O'Brien Sinead, Baker Kate, Clayton-Smith Jill, Dabir Tabib, Josifova Dragana, Joss Shelagh, Kerr Bronwyn, Kraus Alison, McEntagart Meriel, Morton Jenny, Smith Audrey, Splitt Miranda, Thornton Janet M, , Wright Caroline |
| Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurology. Genetics 2017 12 3 (6): e199. Uddin Mohammed, Woodbury-Smith Marc, Chan Ada, Brunga Ledia, Lamoureux Sylvia, Pellecchia Giovanna, Yuen Ryan K C, Faheem Muhammad, Stavropoulos Dimitri J, Drake James, Hahn Cecil D, Hawkins Cynthia, Shlien Adam, Marshall Christian R, Turner Lesley A, Minassian Berge A, Scherer Stephen W, Boelman Cyr |
| Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Annals of neurology 2017 Mar 81 (3): 419-429. Olson Heather E, Kelly McKenna, LaCoursiere Christopher M, Pinsky Rebecca, Tambunan Dimira, Shain Catherine, Ramgopal Sriram, Takeoka Masanori, Libenson Mark H, Julich Kristina, Loddenkemper Tobias, Marsh Eric D, Segal Devorah, Koh Susan, Salman Michael S, Paciorkowski Alex R, Yang Edward, Bergin Ann M, Sheidley Beth Rosen, Poduri Annapur |
| Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. Scientific reports 2017 Jan 7 40319. Wang Yimin, Du Xiaonan, Bin Rao, Yu Shanshan, Xia Zhezhi, Zheng Guo, Zhong Jianmin, Zhang Yunjian, Jiang Yong-Hui, Wang |
| 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 |
| De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy. Genes, brain, and behavior 2018 6 17 (8): e12492. Li T, Cheng M, Wang J, Hong S, Li M, Liao S, Xie L, Jiang |
| Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou P, He N, Zhang J-W, Lin Z-J, Wang J, Yan L-M, Meng H, Tang B, Li B-M, Liu X-R, Shi Y-W, Zhai Q-X, Yi Y-H, Liao W |
| Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 2019 5 21 (11): 2496-2503. Heyne Henrike O, Artomov Mykyta, Battke Florian, Bianchini Claudia, Smith Douglas R, Liebmann Nora, Tadigotla Vasisht, Stanley Christine M, Lal Dennis, Rehm Heidi, Lerche Holger, Daly Mark J, Helbig Ingo, Biskup Saskia, Weber Yvonne G, Lemke Johannes |
| 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 |
| Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. BioMed research international 2019 2019 4872101. Al Mehdi Krami, Fouad Benhnini, Zouhair Elkarhat, Boutaina Belkady, Yassine Naasse, Chaimaa Ait El Cadi, Najat Sifeddine, Hassan Rouba, Rachida Roky, Abdelhamid Barakat, Halima Nahi |
| Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort. Molecular genetics & genomic medicine 2021 5 9 (6): e1689. Liu Liying, Liu Fang, Wang Qiuhong, Xie Hua, Li Zhengchang, Lu Qian, Wang Yangyang, Zhang Mengna, Zhang Yu, Picker Jonathan, Cui Xiaodai, Zou Liping, Chen Xiao |
| Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients. Medicina 2022 12 82 (6): 856-865. Juanes Matías, Loos Mariana, Reyes Gabriela, Veneruzzo Gabriel, García Francisco Martín, Aschettino Giovanna, Calligaris Silvana, Martín María Eugenia, Foncuberta María Eugenia, Alonso Cristina N, Caraballo Roberto |
| 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 |
| Long-term effectiveness and tolerability of ketogenic diet therapy in patients with genetic developmental and epileptic encephalopathy onset within the first 6?months of life. Epilepsia open 2024 1 . Tianyu Song, Jie Deng, Chunhong Chen, Xiaohui Wang, Tongli Han, Xu Wang, Tie Fang, Xiaojuan Tian, Fang Fa |
- Page last reviewed:Feb 1, 2024
- Content source: