[Molecular bases of hereditary hyperekplexia].

Abstract excerpt

INTRODUCTION: Hereditary hyperekplexia is a rare clinical syndrome typically characterized by sudden and generalized startle in response to trivial but unexpected tactile or acoustic stimulations. Typically it is accompanied by a temporally but complete muscular rigidly, and usually it manifests shortly after birth. Some affected infants die suddenly from lapses in cardiorespiratory function. Mental development...

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