Abstract
Hyperekplexia (HPX) is a rare familial disorder characterized by an exaggerated startle reflex and stiffness at birth. In 1958, Boris P. Silfverskiold published a report on a Swedish family affected by “emotionally precipitated drop seizures.”1 This first description of HPX became seminal, but it would take 35 years before mutations in the glycine receptor subunit alpha-1 ( GLRA1 ) gene were discovered as the cause of this disease.2 Subsequently, SLC6A5 and GLRB mutations were discovered as causes of HPX.3 Here, we present a 60-year follow-up of the Silfverskiold family found to harbor the R271Q mutation in the GLRA1 gene. Some affected patients in this family display unreported features for HPX. The authors are grateful to the patients for consenting to this report and to Dr. Ruth H. Walker for review of the draft.
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