The goals of this overview on hereditary hyperekplexia (HPX) caused by dysfunction of glycinergic inhibitory transmission is to:
Describe the clinical characteristics of hereditary hyperekplexia;
Review the genetic causes of hereditary hyperekplexia;
Provide an evaluation strategy to identify the genetic cause of hereditary hyperekplexia in a proband (when possible);
Review management of hereditary hyperekplexia;
Inform genetic counseling of family members of an individual with hereditary hyperekplexia.
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