Literature DB >> 19562758

Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation.

Mirte J Bakker, Els A J Peeters, Marina A J Tijssen.   

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Year:  2009        PMID： 19562758     DOI： 10.1002/mds.22493

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  6 in total

1.  Function of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway.

Authors:  Qiang Shan; Lu Han; Joseph W Lynch
Journal:  Br J Pharmacol       Date:  2012-04       Impact factor: 8.739

2.  Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Authors:  Eloisa Carta; Seo-Kyung Chung; Victoria M James; Angela Robinson; Jennifer L Gill; Nathalie Remy; Jean-François Vanbellinghen; Cheney J G Drew; Sophie Cagdas; Duncan Cameron; Frances M Cowan; Mireria Del Toro; Gail E Graham; Adnan Y Manzur; Amira Masri; Serge Rivera; Emmanuel Scalais; Rita Shiang; Kate Sinclair; Catriona A Stuart; Marina A J Tijssen; Grahame Wise; Sameer M Zuberi; Kirsten Harvey; Brian R Pearce; Maya Topf; Rhys H Thomas; Stéphane Supplisson; Mark I Rees; Robert J Harvey
Journal:  J Biol Chem       Date:  2012-06-14       Impact factor: 5.157

3.  Approach to exaggerated startle reflex: a case of hyperekplexia minor.

Authors:  Haris Hakeem; Ramsha Khurshid; Fowzia Siddiqui; Danish Ejaz Bhatti
Journal:  BMJ Case Rep       Date:  2020-04-23

4.  Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.

Authors:  Jennifer L Gill; Deborah Capper; Jean-François Vanbellinghen; Seo-Kyung Chung; Robert J Higgins; Mark I Rees; G Diane Shelton; Robert J Harvey
Journal:  Neurobiol Dis       Date:  2011-03-17       Impact factor: 5.996

5.  Novel mutations in SLC6A5 with benign course in hyperekplexia.

Authors:  Hormos Salimi Dafsari; Amit Kawalia; Rosanne Sprute; Mert Karakaya; Anna Malenica; Peter Herkenrath; Peter Nürnberg; Susanne Motameny; Holger Thiele; Sebahattin Cirak
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-12-13

Review 6.  Synaptopathies: synaptic dysfunction in neurological disorders - A review from students to students.

Authors:  Katarzyna Lepeta; Mychael V Lourenco; Barbara C Schweitzer; Pamela V Martino Adami; Priyanjalee Banerjee; Silvina Catuara-Solarz; Mario de La Fuente Revenga; Alain Marc Guillem; Mouna Haidar; Omamuyovwi M Ijomone; Bettina Nadorp; Lin Qi; Nirma D Perera; Louise K Refsgaard; Kimberley M Reid; Mariam Sabbar; Arghyadip Sahoo; Natascha Schaefer; Rebecca K Sheean; Anna Suska; Rajkumar Verma; Cinzia Vicidomini; Dean Wright; Xing-Ding Zhang; Constanze Seidenbecher
Journal:  J Neurochem       Date:  2016-09-08       Impact factor: 5.372
  6 in total

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