Hyperekplexia: abnormal startle response due to glycine receptor mutations.

Abstract excerpt

BACKGROUND: Hyperekplexia is a rare but well-delineated clinical syndrome of pathological startle response and neonatal hypertonia. Many cases result from mutations in the alpha 1 subunit of the glycine receptor (GLRA 1). METHOD: The clinical features, management and recent genetic studies of hyperekplexia are reviewed. RESULTS: Diagnosis of the disorder should not be difficult, if one is aware of the syndrome....

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