New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

@article{Bode2013NewHM,
  title={New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.},
  author={Anna Bode and S. Wood and Jonathan G. L. Mullins and Angelo Keramidas and Thomas D Cushion and Rhys H Thomas and W Owen Pickrell and Cheney J G Drew and A. A Awang Masri and Elizabeth A. Jones and Giuseppe Vassallo and A. Peter Born and Fusun Alehan and Sharon Aharoni and Gerald Bannasch and Marius Bartsch and Bulent Kara and Amanda Krause and Elie George Karam and Stephanie Matta and Vikramraj K Jain and Hanna Mandel and Michael Freilinger and Gail E. Graham and E. J. Hobson and Sue Chatfield and Catherine Vincent-Delorme and Jubran E Rahme and Zaid Afawi and Samuel F. Berkovic and Owain W Howell and Jean-François Vanbellinghen and Mark Ian Rees and Seo-Kyung Chung and Joseph W Lynch},
  journal={The Journal of biological chemistry},
  year={2013},
  volume={288 47},
  pages={
          33745-59
        }
}
Hyperekplexia is a syndrome of readily provoked startle responses, alongside episodic and generalized hypertonia, that presents within the first month of life. Inhibitory glycine receptors are pentameric ligand-gated ion channels with a definitive and clinically well stratified linkage to hyperekplexia. Most hyperekplexia cases are caused by mutations in the α1 subunit of the human glycine receptor (hGlyR) gene (GLRA1). Here we analyzed 68 new unrelated hyperekplexia probands for GLRA1… CONTINUE READING
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