A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.

@article{Gregory2008ANG,
  title={A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.},
  author={Mary Lee Gregory and Greg F Guzauskas and Terence S Edgar and Kate B Clarkson and Anand K. Srivastava and Kenton Roy Holden},
  journal={Journal of child neurology},
  year={2008},
  volume={23 12},
  pages={1433-8}
}
Hyperekplexia (MIM #149400) is a rare neurological disorder characterized by an exaggerated startle response, infantile hypertonia and hyperreflexia without spasticity, a hesitant gait that usually improves by 3 years of age, and nocturnal myoclonus. Familial hyperekplexia is usually autosomal dominant resulting from mutations in the inhibitory glycine receptor subunit alpha 1 (GLRA1) gene on chromosome 5q. We identified a 3-generation family with progressively severe phenotypes of… CONTINUE READING