Hereditary Hyperekplexia Overview

Excerpt

The goals of this overview on hereditary hyperekplexia (HPX) caused by dysfunction of glycinergic inhibitory transmission is to:

1. 1

   Describe the clinical characteristics of hereditary hyperekplexia;

2. 2

   Review the genetic causes of hereditary hyperekplexia;

3. 3

   Provide an evaluation strategy to identify the genetic cause of hereditary hyperekplexia in a proband (when possible);

4. 4

   Review management of hereditary hyperekplexia;

5. 5

   Inform genetic counseling of family members of an individual with hereditary hyperekplexia.