Literature DB >> 22211739

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome.

H Saitsu, M Kato, M Shimono, A Senju, S Tanabe, T Kimura, K Nishiyama, Y Yoneda, Y Kondo, Y Tsurusaki, H Doi, N Miyake, K Hayasaka, N Matsumoto.   

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Year:  2011        PMID： 22211739     DOI： 10.1111/j.1399-0004.2011.01733.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

Review 1.  SPTAN1 encephalopathy: distinct phenotypes and genotypes.

Authors:  Jun Tohyama; Mitsuko Nakashima; Shin Nabatame; Ch'ng Gaik-Siew; Rie Miyata; Zvonka Rener-Primec; Mitsuhiro Kato; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  J Hum Genet       Date:  2015-01-29       Impact factor: 3.172

2.  GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Authors:  Gemma L Carvill; Sarah Weckhuysen; Jacinta M McMahon; Corinna Hartmann; Rikke S Møller; Helle Hjalgrim; Joseph Cook; Eileen Geraghty; Brian J O'Roak; Steve Petrou; Alison Clarke; Deepak Gill; Lynette G Sadleir; Hiltrud Muhle; Sarah von Spiczak; Marina Nikanorova; Bree L Hodgson; Elena V Gazina; Arvid Suls; Jay Shendure; Leanne M Dibbens; Peter De Jonghe; Ingo Helbig; Samuel F Berkovic; Ingrid E Scheffer; Heather C Mefford
Journal:  Neurology       Date:  2014-03-12       Impact factor: 9.910

3.  STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.

Authors:  Debra Abramov; Noah Guy Lewis Guiberson; Jacqueline Burré
Journal:  J Neurochem       Date:  2020-08-04       Impact factor: 5.372

4.  9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

Authors:  Sophie Nambot; Alice Masurel; Salima El Chehadeh; Anne-Laure Mosca-Boidron; Christel Thauvin-Robinet; Mathilde Lefebvre; Nathalie Marle; Julien Thevenon; Stéphanie Perez-Martin; Véronique Dulieu; Frédéric Huet; Ghislaine Plessis; Joris Andrieux; Pierre-Simon Jouk; Gipsy Billy-Lopez; Charles Coutton; Fanny Morice-Picard; Marie-Ange Delrue; Delphine Heron; Caroline Rooryck; Alice Goldenberg; Pascale Saugier-Veber; Géraldine Joly-Hélas; Patricia Calenda; Paul Kuentz; Sylvie Manouvrier-Hanu; Sophie Dupuis-Girod; Patrick Callier; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2015-09-23       Impact factor: 4.246

5.  Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Authors:  Heather E Olson; McKenna Kelly; Christopher M LaCoursiere; Rebecca Pinsky; Dimira Tambunan; Catherine Shain; Sriram Ramgopal; Masanori Takeoka; Mark H Libenson; Kristina Julich; Tobias Loddenkemper; Eric D Marsh; Devorah Segal; Susan Koh; Michael S Salman; Alex R Paciorkowski; Edward Yang; Ann M Bergin; Beth Rosen Sheidley; Annapurna Poduri
Journal:  Ann Neurol       Date:  2017-02-14       Impact factor: 10.422

6.  Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Authors:  Ian M Campbell; Svetlana A Yatsenko; Patricia Hixson; Tyler Reimschisel; Matthew Thomas; William Wilson; Usha Dayal; James W Wheless; Amy Crunk; Cynthia Curry; Nicole Parkinson; Leona Fishman; James J Riviello; Malgorzata J M Nowaczyk; Susan Zeesman; Jill A Rosenfeld; Bassem A Bejjani; Lisa G Shaffer; Sau Wai Cheung; James R Lupski; Pawel Stankiewicz; Fernando Scaglia
Journal:  Genet Med       Date:  2012-06-21       Impact factor: 8.822

7.  Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Authors:  Julia K Ehret; Hartmut Engels; Joris Andrieux; Jennifer A Lee; Alexander M Zink; Kirsten Cremer; Jessica Becker; Johannes P Zimmermann; Eva Wohlleber; Ute Grasshoff; Eva Rossier; Michael Bonin; Elisabeth Mangold; Andrea Bevot; Stefanie Schön; Stefanie Heilmann-Heimbach; Nicola Dennert; Michèle Mathieu-Dramard; Elodie Lacaze; Ghislaine Plessis; Alain de Broca; Guillaume Jedraszak; Benno Röthlisberger; Peter Miny; Isabel Filges; Andreas Dufke
Journal:  Mol Cytogenet       Date:  2015-09-29       Impact factor: 2.009

Review 8.  Emerging role of the KCNT1 Slack channel in intellectual disability.

Authors:  Grace E Kim; Leonard K Kaczmarek
Journal:  Front Cell Neurosci       Date:  2014-07-28       Impact factor: 5.505

9.  De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures.

Authors:  Ping Yang; Robert Broadbent; Chitra Prasad; Simon Levin; Sharan Goobie; Joan H Knoll; Asuri N Prasad
Journal:  Front Neurol       Date:  2021-12-24       Impact factor: 4.003

Review 10.  Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review.

Authors:  Shunli Liu; Liyuan Wang; Xiao Tang Cai; Hui Zhou; Dan Yu; Zhiling Wang
Journal:  Medicine (Baltimore)       Date:  2018-05       Impact factor: 1.889
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