Literature DB >> 27799854

STXBP1-Related EOEE - Early Onset Epilepsy AND Encephalopathy, or is it Early Onset Epileptic Encephalopathy?

Ajay Gupta.   

Abstract

Entities:  

Year:  2016        PMID: 27799854      PMCID: PMC5083047          DOI: 10.5698/1535-7511-16.5.302

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  9 in total

1.  Synaptic assembly of the brain in the absence of neurotransmitter secretion.

Authors:  M Verhage; A S Maia; J J Plomp; A B Brussaard; J H Heeroma; H Vermeer; R F Toonen; R E Hammer; T K van den Berg; M Missler; H J Geuze; T C Südhof
Journal:  Science       Date:  2000-02-04       Impact factor: 47.728

2.  Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size.

Authors:  Ruud F G Toonen; Keimpe Wierda; Michèle S Sons; Heidi de Wit; L Niels Cornelisse; Arjen Brussaard; Jaap J Plomp; Matthijs Verhage
Journal:  Proc Natl Acad Sci U S A       Date:  2006-11-16       Impact factor: 11.205

3.  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

4.  STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.

Authors:  Motoko Otsuka; Hirokazu Oguni; Jao-Shwann Liang; Hiroko Ikeda; Katsumi Imai; Kyoko Hirasawa; Kaoru Imai; Emiko Tachikawa; Keiko Shimojima; Makiko Osawa; Toshiyuki Yamamoto
Journal:  Epilepsia       Date:  2010-11-03       Impact factor: 5.864

Review 5.  STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Authors:  Hannah Stamberger; Marina Nikanorova; Marjolein H Willemsen; Patrizia Accorsi; Marco Angriman; Hartmut Baier; Ira Benkel-Herrenbrueck; Valérie Benoit; Mauro Budetta; Almuth Caliebe; Gaetano Cantalupo; Giuseppe Capovilla; Gianluca Casara; Carolina Courage; Marie Deprez; Anne Destrée; Robertino Dilena; Corrie E Erasmus; Madeleine Fannemel; Roar Fjær; Lucio Giordano; Katherine L Helbig; Henrike O Heyne; Joerg Klepper; Gerhard J Kluger; Damien Lederer; Monica Lodi; Oliver Maier; Andreas Merkenschlager; Nina Michelberger; Carlo Minetti; Hiltrud Muhle; Judith Phalin; Keri Ramsey; Antonino Romeo; Jens Schallner; Ina Schanze; Marwan Shinawi; Kristel Sleegers; Katalin Sterbova; Steffen Syrbe; Monica Traverso; Andreas Tzschach; Peter Uldall; Rudy Van Coster; Helene Verhelst; Maurizio Viri; Susan Winter; Markus Wolff; Martin Zenker; Leonardo Zoccante; Peter De Jonghe; Ingo Helbig; Pasquale Striano; Johannes R Lemke; Rikke S Møller; Sarah Weckhuysen
Journal:  Neurology       Date:  2016-02-10       Impact factor: 9.910

6.  Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

Authors:  Anne T Berg; Samuel F Berkovic; Martin J Brodie; Jeffrey Buchhalter; J Helen Cross; Walter van Emde Boas; Jerome Engel; Jacqueline French; Tracy A Glauser; Gary W Mathern; Solomon L Moshé; Douglas Nordli; Perrine Plouin; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2010-02-26       Impact factor: 5.864

7.  Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.

Authors:  Sarah Weckhuysen; Philip Holmgren; Rik Hendrickx; Anna C Jansen; Daniele Hasaerts; Charlotte Dielman; Julitta de Bellescize; Nadia Boutry-Kryza; Gaetan Lesca; Sarah Von Spiczak; Ingo Helbig; Deepak Gill; Simone Yendle; Rikke S Møller; Laura Klitten; Christian Korff; Catherine Godfraind; Kenou Van Rijckevorsel; Peter De Jonghe; Helle Hjalgrim; Ingrid E Scheffer; Arvid Suls
Journal:  Epilepsia       Date:  2013-02-14       Impact factor: 5.864

8.  Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Authors:  Giulia Barcia; Nicole Chemaly; Stephanie Gobin; Mathieu Milh; Patrick Van Bogaert; Christine Barnerias; Anna Kaminska; Olivier Dulac; Isabelle Desguerre; Valerie Cormier; Nathalie Boddaert; Rima Nabbout
Journal:  Eur J Med Genet       Date:  2013-11-01       Impact factor: 2.708

9.  A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.

Authors:  Michael J Keogh; D Daud; A Pyle; J Duff; H Griffin; L He; C L Alston; H Steele; S Taggart; A P Basu; R W Taylor; R Horvath; V Ramesh; Patrick F Chinnery
Journal:  Neurogenetics       Date:  2014-11-25       Impact factor: 2.660

  9 in total
  1 in total

Review 1.  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

  1 in total

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