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Review

Hereditary Hyperekplexia Overview

Bettina Balint  1   2 , Rhys Thomas  3
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Review

Hereditary Hyperekplexia Overview

Bettina Balint et al.

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.

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References

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