The Glycinergic System in Human Startle Disease: A Genetic Screening Approach

@inproceedings{Davies2010TheGS,
  title={The Glycinergic System in Human Startle Disease: A Genetic Screening Approach},
  author={Jeff S. Davies and Seo-Kyung Chung and Rhys H Thomas and Angela D. Robinson and Carrie Louise Hammond and Jonathan G. L. Mullins and Eloisa M Carta and Brian R. Pearce and Kirsten Harvey and Robert J Harvey and Mark Ian Rees},
  booktitle={Front. Mol. Neurosci.},
  year={2010}
}
Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acoustic stimuli which first presents as neonatal hypertonia, followed in some with episodes of life-threatening infantile apnoea. Genetic screening studies have demonstrated that hyperekplexia is genetically heterogeneous with several missense and… CONTINUE READING

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