Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.

@article{Becker2006IdentificationOT,
  title={Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.},
  author={Kristina Becker and Carsten Hohoff and Bernhard Schmitt and H. Christen and Bernd Axel Neubauer and Torsten Sandrieser and C K Becker},
  journal={Human mutation},
  year={2006},
  volume={27 10},
  pages={
          1061-2
        }
}
Hyperekplexia (startle disease) is a hereditary motor disease caused by mutations within the GLRA1 gene (Chr. 5q33.1), which encodes the alpha1 subunit of the inhibitory glycine receptor (GlyR). While most patients are diagnosed with dominant hyperekplexia associated with point mutations within or adjacent to the channel pore, recessive hyperekplexia is less frequent. Here, we report five new pedigrees of recessive hyperekplexia in apparently unrelated families of Kurdish origin associated with… CONTINUE READING

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GLRB is the third major gene of effect in hyperekplexia.

Human molecular genetics • 2013
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