Hereditary Hyperekplexia Overview

Review
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.
[updated ].

Excerpt

The goals of this overview on hereditary hyperekplexia (HPX) caused by dysfunction of glycinergic inhibitory transmission are the following.

Goal 1: Describe the clinical characteristics of hereditary hyperekplexia.

Goal 2: Review the genetic causes of hereditary hyperekplexia.

Goal 3: Provide an evaluation strategy to identify the genetic cause of hereditary hyperekplexia in a proband (when possible).

Goal 4: Inform genetic counseling of family members of an individual with hereditary hyperekplexia.

Goal 5: Review management of hereditary hyperekplexia.

Publication types

  • Review