Literature DB >> 26316853

Synaptopathies Heat Up: Mutations in STX1B in Fever-Associated Epilepsies.

Jennifer A Kearney.   

Abstract

Entities:  

Year:  2015        PMID： 26316853      PMCID： PMC4527144          DOI： 10.5698/1535-7597-15.3.138

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


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  10 in total

1.  Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Authors:  Julian Schubert; Aleksandra Siekierska; Mélanie Langlois; Patrick May; Clément Huneau; Felicitas Becker; Hiltrud Muhle; Arvid Suls; Johannes R Lemke; Carolien G F de Kovel; Holger Thiele; Kathryn Konrad; Amit Kawalia; Mohammad R Toliat; Thomas Sander; Franz Rüschendorf; Almuth Caliebe; Inga Nagel; Bernard Kohl; Angela Kecskés; Maxime Jacmin; Katia Hardies; Sarah Weckhuysen; Erik Riesch; Thomas Dorn; Eva H Brilstra; Stephanie Baulac; Rikke S Møller; Helle Hjalgrim; Bobby P C Koeleman; Karin Jurkat-Rott; Frank Lehman-Horn; Jared C Roach; Gustavo Glusman; Leroy Hood; David J Galas; Benoit Martin; Peter A M de Witte; Saskia Biskup; Peter De Jonghe; Ingo Helbig; Rudi Balling; Peter Nürnberg; Alexander D Crawford; Camila V Esguerra; Yvonne G Weber; Holger Lerche
Journal:  Nat Genet       Date:  2014-11-02       Impact factor: 38.330

2.  Temperature-sensitive paralytic mutations demonstrate that synaptic exocytosis requires SNARE complex assembly and disassembly.

Authors:  J T Littleton; E R Chapman; R Kreber; M B Garment; S D Carlson; B Ganetzky
Journal:  Neuron       Date:  1998-08       Impact factor: 17.173

3.  De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Authors: 
Journal:  Am J Hum Genet       Date:  2014-09-25       Impact factor: 11.025

4.  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

5.  Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.

Authors:  H Lerche; Y G Weber; H Baier; K Jurkat-Rott; O Kraus de Camargo; A C Ludolph; H Bode; F Lehmann-Horn
Journal:  Neurology       Date:  2001-10-09       Impact factor: 9.910

6.  A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.

Authors:  Yvonne G Weber; Miriam Jacob; Gabriele Weber; Holger Lerche
Journal:  Epilepsia       Date:  2008-05-08       Impact factor: 5.864

7.  De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Authors:  Hirotomo Saitsu; Mitsuhiro Kato; Takeshi Mizuguchi; Keisuke Hamada; Hitoshi Osaka; Jun Tohyama; Katsuhisa Uruno; Satoko Kumada; Kiyomi Nishiyama; Akira Nishimura; Ippei Okada; Yukiko Yoshimura; Syu-ichi Hirai; Tatsuro Kumada; Kiyoshi Hayasaka; Atsuo Fukuda; Kazuhiro Ogata; Naomichi Matsumoto
Journal:  Nat Genet       Date:  2008-05-11       Impact factor: 38.330

Review 8.  Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.

Authors:  Thomas C Südhof
Journal:  Neuron       Date:  2013-10-30       Impact factor: 17.173

9.  Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability.

Authors:  Luis Rohena; Julie Neidich; Megan Truitt Cho; Kelly Df Gonzalez; Sha Tang; Orrin Devinsky; Wendy K Chung
Journal:  Rare Dis       Date:  2013-09-05

10.  Syntaxin 1B, but not syntaxin 1A, is necessary for the regulation of synaptic vesicle exocytosis and of the readily releasable pool at central synapses.

Authors:  Tatsuya Mishima; Tomonori Fujiwara; Masumi Sanada; Takefumi Kofuji; Masami Kanai-Azuma; Kimio Akagawa
Journal:  PLoS One       Date:  2014-02-28       Impact factor: 3.240
  10 in total
  1 in total

1.  Syntaxin 1B Mediates Berberine's Roles in Epilepsy-Like Behavior in a Pentylenetetrazole-Induced Seizure Zebrafish Model.

Authors:  Yang-Min Zheng; Bo Chen; Jian-Dong Jiang; Jing-Pu Zhang
Journal:  Front Mol Neurosci       Date:  2018-11-26       Impact factor: 5.639
  1 in total

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