Hereditary Hyperekplexia Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2007 Jul 31 [updated 2019 Dec 19].

Bettina Balint^{1

2}, Rhys Thomas³

¹ Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom
² Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany
³ Institute of Neuroscience, Newcastle University;, Neurosciences, Royal Victoria Infirmary, Newcastle-upon-Tyne, United Kingdom

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.