Literature DB >> 15365143

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family.

C H Tsai1, F C Chang, Y C Su, F J Tsai, M K Lu, C C Lee, C C Kuo, Y W Yang, C S Lu.   

Abstract

The authors report a Taiwanese family with autosomal recessive hyperekplexia. Two novel mutations, W96C (from the paternal allele) and R344X (from the maternal allele), which are located in exon 4 and exon 7 of the GLRA1 gene, were identified in this family. A series of electrophysiologic investigations were conducted in one of the probands, and the results suggest that the "startle center" is located subcortically.

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Year:  2004        PMID： 15365143     DOI： 10.1212/01.wnl.0000138566.65519.67

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  14 in total

1.  A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

Authors:  Ivan Milenkovic; Alexander Zimprich; Martin Gencik; Kirsten Platho-Elwischger; Stefan Seidel
Journal:  J Neural Transm (Vienna)       Date:  2018-09-04       Impact factor: 3.575

2.  Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.

Authors:  Natascha Schaefer; Christoph J Kluck; Kerry L Price; Heike Meiselbach; Nadine Vornberger; Stephan Schwarzinger; Stephanie Hartmann; Georg Langlhofer; Solveig Schulz; Nadja Schlegel; Knut Brockmann; Bryan Lynch; Cord-Michael Becker; Sarah C R Lummis; Carmen Villmann
Journal:  J Neurosci       Date:  2015-01-07       Impact factor: 6.167

3.  Single expressed glycine receptor domains reconstitute functional ion channels without subunit-specific desensitization behavior.

Authors:  Heike Meiselbach; Nico Vogel; Georg Langlhofer; Sabine Stangl; Barbara Schleyer; Lamia'a Bahnassawy; Heinrich Sticht; Hans-Georg Breitinger; Cord-Michael Becker; Carmen Villmann
Journal:  J Biol Chem       Date:  2014-08-20       Impact factor: 5.157

4.  Congenital hyperekplexia: five sporadic cases.

Authors:  Serge Rivera; Frédéric Villega; Anne de Saint-Martin; Jacqueline Matis; Benoît Escande; Denys Chaigne; Dominique Astruc
Journal:  Eur J Pediatr       Date:  2005-10-07       Impact factor: 3.183

5.  The importance of TM3-4 loop subdomains for functional reconstitution of glycine receptors by independent domains.

Authors:  Bea Unterer; Cord-Michael Becker; Carmen Villmann
Journal:  J Biol Chem       Date:  2012-09-20       Impact factor: 5.157

Review 6.  Glycine receptor mouse mutants: model systems for human hyperekplexia.

Authors:  Natascha Schaefer; Georg Langlhofer; Christoph J Kluck; Carmen Villmann
Journal:  Br J Pharmacol       Date:  2013-11       Impact factor: 8.739

Review 7.  The impact of human hyperekplexia mutations on glycine receptor structure and function.

Authors:  Anna Bode; Joseph W Lynch
Journal:  Mol Brain       Date:  2014-01-09       Impact factor: 4.041

8.  Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function.

Authors:  Yan Zhang; Thi Nhu Thao Ho; Robert J Harvey; Joseph W Lynch; Angelo Keramidas
Journal:  Front Mol Neurosci       Date:  2017-05-23       Impact factor: 5.639

9.  Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?

Authors:  Natascha Schaefer; Nicolas Vogel; Carmen Villmann
Journal:  Front Mol Neurosci       Date:  2012-10-31       Impact factor: 5.639

Review 10.  The Intracellular Loop of the Glycine Receptor: It's not all about the Size.

Authors:  Georg Langlhofer; Carmen Villmann
Journal:  Front Mol Neurosci       Date:  2016-06-03       Impact factor: 5.639
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