Literature DB >> 30254526

Trading up to a New Model of STXBP-Encephalopathy.

Matthew Weston.   

Abstract

Entities:  

Year:  2018        PMID： 30254526      PMCID： PMC6145383          DOI： 10.5698/1535-7597.18.4.257

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


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  11 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.  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.  Mutations in the Drosophila Rop gene suggest a function in general secretion and synaptic transmission.

Authors:  S D Harrison; K Broadie; J van de Goor; G M Rubin
Journal:  Neuron       Date:  1994-09       Impact factor: 17.173

5.  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

6.  Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.

Authors:  Jovana Kovacevic; Gregoire Maroteaux; Desiree Schut; Maarten Loos; Mohit Dubey; Julika Pitsch; Esther Remmelink; Bastijn Koopmans; James Crowley; L Niels Cornelisse; Patrick F Sullivan; Susanne Schoch; Ruud F Toonen; Oliver Stiedl; Matthijs Verhage
Journal:  Brain       Date:  2018-05-01       Impact factor: 13.501

7.  Munc18-1 binding to the neuronal SNARE complex controls synaptic vesicle priming.

Authors:  Ferenc Deák; Yi Xu; Wen-Pin Chang; Irina Dulubova; Mikhail Khvotchev; Xinran Liu; Thomas C Südhof; Josep Rizo
Journal:  J Cell Biol       Date:  2009-03-02       Impact factor: 10.539

8.  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Authors:  Gemma L Carvill; Sinéad B Heavin; Simone C Yendle; Jacinta M McMahon; Brian J O'Roak; Joseph Cook; Adiba Khan; Michael O Dorschner; Molly Weaver; Sophie Calvert; Stephen Malone; Geoffrey Wallace; Thorsten Stanley; Ann M E Bye; Andrew Bleasel; Katherine B Howell; Sara Kivity; Mark T Mackay; Victoria Rodriguez-Casero; Richard Webster; Amos Korczyn; Zaid Afawi; Nathanel Zelnick; Tally Lerman-Sagie; Dorit Lev; Rikke S Møller; Deepak Gill; Danielle M Andrade; Jeremy L Freeman; Lynette G Sadleir; Jay Shendure; Samuel F Berkovic; Ingrid E Scheffer; Heather C Mefford
Journal:  Nat Genet       Date:  2013-05-26       Impact factor: 38.330

9.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

10.  Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

Authors:  Ikuo Ogiwara; Takuji Iwasato; Hiroyuki Miyamoto; Ryohei Iwata; Tetsushi Yamagata; Emi Mazaki; Yuchio Yanagawa; Nobuaki Tamamaki; Takao K Hensch; Shigeyoshi Itohara; Kazuhiro Yamakawa
Journal:  Hum Mol Genet       Date:  2013-08-06       Impact factor: 6.150
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