HuGE Literature Finder
Records 1-12
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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 |
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Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
Genes, brain, and behavior 2018 Jan . Zhou Peng, He Na, Zhang Jing-Wen, Lin Zhi-Jian, Wang Jie, Yan Li-Min, Meng Heng, Tang Bin, Li Bing-Mei, Liu Xiao-Rong, Shi Yi-Wu, Zhai Qiong-Xiang, Yi Yong-Hong, Liao Wei-Pi |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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- Page last updated:Apr 15, 2021
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