Hyperekplexia (STHE)

Alias:

Hereditary Hyperekplexia

Congenital Stiff Man Syndrome

Familial Startle Disease

Hereditary Hyperexplexia

Kok Disease

Stiff Baby Syndrome

Congenital Stiff-Person Syndrome

Congenital Stiff-Man Syndrome

Familial Hyperekplexia

Stiff-Person Syndrome

Stiff-Baby Syndrome

Startle Syndrome

Startle Disease

Sthe

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperekplexia, also known as hereditary hyperekplexia, is related to hyperekplexia 1 and hyperekplexia 2, and has symptoms including fever, muscle rigidity and opisthotonus. An important gene associated with Hyperekplexia is GLRA1 (Glycine Receptor Alpha 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Beta-2 adrenergic-dependent CFTR expression. The drugs Picropodophyllin and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include brain and globus pallidus, and related phenotypes are spasticity and hyperreflexia

Related ID：

MALACARDS：HYP097

MESH：D000071017