Article
Hyperekplexia: abnormal startle response due to glycine receptor mutations.
The British journal of psychiatry : the journal of mental science - 1 Feb 1997
Andrew M, Owen M J
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 hyp...
Topics
- Diagnosis, Differential
- Humans
- Infant, Newborn
- Muscle Hypertonia
- Mutation
- Pedigree
- Receptors, Glycine
- Reflex, Startle
- Syndrome