Hyperekplexia: a treatable neurogenetic disease

@article{Zhou2002HyperekplexiaAT,
  title={Hyperekplexia: a treatable neurogenetic disease},
  author={Lan Zhou and K. Chillag and M. Nigro},
  journal={Brain and Development},
  year={2002},
  volume={24},
  pages={669-674}
}
Hyperekplexia is primarily an autosomal dominant disease characterized by exaggerated startle reflex and neonatal hypertonia. It can be associated with, if untreated, sudden infant death from apnea or aspiration pneumonia and serious injuries and loss of ambulation from frequent falls. Different mutations in the alpha1 subunit of inhibitory glycine receptor (GLRA1) gene have been identified in many affected families. The most common mutation is Arg271 reported in at least 12 independent… Expand
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Paper Mentions

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ConditionsHyperekplexia
InterventionOther
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References

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A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
Hyperekplexia in neonates
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