Human Genome Epidemiology Literature Finder
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Records 1 - 19 (of 19 Records) |
| Query Trace: Syndrome and STXBP1[original query] |
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| 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 |
| Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (London, England) 2012 Nov 380 (9854): 1674-82. Rauch Anita, Wieczorek Dagmar, Graf Elisabeth, Wieland Thomas, Endele Sabine, Schwarzmayr Thomas, Albrecht Beate, Bartholdi Deborah, Beygo Jasmin, Di Donato Nataliya, Dufke Andreas, Cremer Kirsten, Hempel Maja, Horn Denise, Hoyer Juliane, Joset Pascal, Röpke Albrecht, Moog Ute, Riess Angelika, Thiel Christian T, Tzschach Andreas, Wiesener Antje, Wohlleber Eva, Zweier Christiane, Ekici Arif B, Zink Alexander M, Rump Andreas, Meisinger Christa, Grallert Harald, Sticht Heinrich, Schenck Annette, Engels Hartmut, Rappold Gudrun, Schröck Evelin, Wieacker Peter, Riess Olaf, Meitinger Thomas, Reis André, Strom Tim |
| 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 |
| Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain & development 2015 Sep . Yamamoto Toshiyuki, Shimojima Keiko, Yano Tamami, Ueda Yuki, Takayama Rumiko, Ikeda Hiroko, Imai Katsu |
| Pathway Analysis Based on a Genome-Wide Association Study of Polycystic Ovary Syndrome. PloS one 2015 10 (8): e0136609. Shim Unjin, Kim Han-Na, Lee Hyejin, Oh Jee-Young, Sung Yeon-Ah, Kim Hyung-L |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Efficacy of levetiracetam in STXBP1 encephalopathy with different phenotypic and genetic spectra. Seizure 2022 1 95 64-74. Wang Qiu-Hong, Cao Jia-Jie, Wang Yang-Yang, Zhang Meng-Na, Liu Li-Ying, Wang Jing, Lu Qian, He Wen, Shen Yan-Wen, Chen Hui-Min, Luo Xiao-Mei, Chen Qian, Zou Li-Pi |
| 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 |
| Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. Neurology. Genetics 2024 4 10 (3): e200153. Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando G Barsottini, José Luiz Pedro |
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