Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 44 Records) |
Query Trace: STXBP1[original query] |
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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 |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PLoS genetics 2017 11 13 (11): e1007104. Zhu Xiaolin, Padmanabhan Raghavendra, Copeland Brett, Bridgers Joshua, Ren Zhong, Kamalakaran Sitharthan, O'Driscoll-Collins Ailbhe, Berkovic Samuel F, Scheffer Ingrid E, Poduri Annapurna, Mei Davide, Guerrini Renzo, Lowenstein Daniel H, Allen Andrew S, Heinzen Erin L, Goldstein David |
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2017 Nov 1-4. Hewson Stacy, Brunga Ledia, Ojeda Matilde Fernandez, Imhof Elizabeth, Patel Jaina, Zak Maria, Donner Elizabeth J, Kobayashi Jeff, Salomons Gajja S, Mercimek-Andrews Saad |
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 |
The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy. Frontiers in neurology 2018 9 530. Ko Ara, Jung Da E, Kim Se H, Kang Hoon-Chul, Lee Joon S, Lee Seung T, Choi Jong R, Kim Heung |
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genetics in medicine : official journal of the American College of Medical Genetics 2018 7 21 (3): 553-563. Valence Stéphanie, Cochet Emmanuelle, Rougeot Christelle, Garel Catherine, Chantot-Bastaraud Sandra, Lainey Elodie, Afenjar Alexandra, Barthez Marie-Anne, Bednarek Nathalie, Doummar Diane, Faivre Laurence, Goizet Cyril, Haye Damien, Heron Bénédicte, Kemlin Isabelle, Lacombe Didier, Milh Mathieu, Moutard Marie-Laure, Riant Florence, Robin Stéphanie, Roubertie Agathe, Sarda Pierre, Toutain Annick, Villard Laurent, Ville Dorothée, Billette de Villemeur Thierry, Rodriguez Diana, Burglen Lyd |
Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells. Arteriosclerosis, thrombosis, and vascular biology 2018 Jun . Schillemans Maaike, Karampini Ellie, van den Eshof Bart, Gangaev Anastasia, Hofman Menno, van Breevoort Dorothee, Meems Henriët, Janssen Hans, Mulder Aat A, Jost Carolina R, Escher Johanna C, Adam Rüdiger, Carter Tom, Koster Abraham J, van den Biggelaar Maartje, Voorberg Jan, Bierings Rub |
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 |
Genomic analysis identifies masqueraders of full-term cerebral palsy. Annals of clinical and translational neurology 2018 May 5 (5): 538-551. Takezawa Yusuke, Kikuchi Atsuo, Haginoya Kazuhiro, Niihori Tetsuya, Numata-Uematsu Yurika, Inui Takehiko, Yamamura-Suzuki Saeko, Miyabayashi Takuya, Anzai Mai, Suzuki-Muromoto Sato, Okubo Yukimune, Endo Wakaba, Togashi Noriko, Kobayashi Yasuko, Onuma Akira, Funayama Ryo, Shirota Matsuyuki, Nakayama Keiko, Aoki Yoko, Kure Shig |
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3 (Bethesda, Md.) 2018 2 8 (4): 1115-1118. Uddin Mohammed, Woodbury-Smith Marc, Chan Ada J S, Albanna Ammar, Minassian Berge, Boelman Cyrus, Scherer Stephen |
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 |
Interaction networks of Weibel-Palade body regulators syntaxin-3 and syntaxin binding protein 5 in endothelial cells. Journal of proteomics 2019 6 205 103417. Schillemans Maaike, Karampini Ellie, Hoogendijk Arie J, Wahedi Maryam, van Alphen Floris P J, van den Biggelaar Maartje, Voorberg Jan, Bierings Rub |
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 |
Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility - A Case-Control Association Study. Headache 2020 9 60 (10): 2152-2165. Quintas Marlene, Neto João Luís, Sequeiros Jorge, Sousa Alda, Pereira-Monteiro José, Lemos Carolina, Alonso Isab |
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 |
Functional and clinical implications of genetic structure in 1686 Italian exomes. Human mutation 2020 Dec . Birolo Giovanni, Aneli Serena, Di Gaetano Cornelia, Cugliari Giovanni, Russo Alessia, Allione Alessandra, Casalone Elisabetta, Giorgio Elisa, Paraboschi Elvezia M, Ardissino Diego, Duga Stefano, Asselta Rosanna, Matullo Giusep |
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 |
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 |
Further delineation of SET-related intellectual disability syndrome. American journal of medical genetics. Part A 2022 2 188 (5): 1595-1599. Shono Kenta, Enomoto Yumi, Tsurusaki Yoshinori, Kumaki Tatsuro, Masuno Mitsuo, Kurosawa Ken |
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 |
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China. BMC medical genomics 2023 3 16 (1): 46. Kessi Miriam, Chen Baiyu, Shan Li-Dan, Wang Ying, Yang Lifen, Yin Fei, He Fang, Peng Jing, Wang Guo |
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 |
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 |
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- Page last updated:May 13, 2024
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