Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 7/03/2008
Symbol STHE1
Location 5q33.1
Name Startle disease, hyperekplexia 1
Other name(s)
  • Stiff-baby syndrome
  • Stiff-man syndrome, congenital
  • Stiff-person syndrome, congenital
  • Kok disease
  • Corresponding gene GLRA1
    Main clinical features
  • neonatal hypertonia and an exaggerated startle reflex, characterized by difficulty in making sudden movements
  • can have serious consequences, including brain damage and/or sudden infant death
  • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name glycine receptor, alpha 1 subunit inhibitory (GLRA1), ligand gated ion (cl) channel