Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.

@article{Saul1999NovelGM,
  title={Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.},
  author={Brigitta Saul and Thomas Kuner and Diana Sobetzko and Wolfram Brune and Folker A Hanefeld and H. M. Meinck and Cord Michael Becker},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={1999},
  volume={19 3},
  pages={869-77}
}
Missense mutations as well as a null allele of the human glycine receptor alpha1 subunit gene GLRA1 result in the neurological disorder hyperekplexia [startle disease, stiff baby syndrome, Mendelian Inheritance in Man (MIM) #149400]. In a pedigree showing dominant transmission of hyperekplexia, we identified a novel point mutation C1128A of GLRA1. This mutation encodes an amino acid substitution (P250T) in the cytoplasmic loop linking transmembrane regions M1 and M2 of the mature alpha1… CONTINUE READING
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