Familial startle disease is among the oddest of disorders. The demonstration of a mutation in the inhibitory glycine receptor points towards a cause of this and similar perturbations.
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Ivinson, A. Inhibition and over-reaction. Nature 366, 488 (1993). https://doi.org/10.1038/366488a0
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DOI: https://doi.org/10.1038/366488a0