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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
Free Books & Documents
Review

Hereditary Hyperekplexia Overview

Bettina Balint et al.
Free Books & Documents

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

    1. Abboud H, Yu XX, Knusel K, Fernandez HH, Cohen JA. Movement disorders in early MS and related diseases: A prospective observational study. Neurol Clin Pract. 2019;9:24–31. - PMC - PubMed
    1. Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. Startle syndromes. Lancet Neurol. 2006;5:513–24. - PubMed
    1. Balint B, Bhatia KP. Stiff person syndrome and other immune-mediated movement disorders - new insights. Curr Opin Neurol. 2016;29:496–506. - PubMed
    1. Balint B, Vincent A, Meinck HM, Irani SR, Bhatia KP. Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology. Brain. 2018;141:13–36. - PMC - PubMed
    1. Bernasconi A, Regli F, Schorderet DF, Pescia G. Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family. Rev Neurol (Paris). 1996;152:447–50. - PubMed

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