A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations

Here, we report the case of a 63-year-old woman affected by abnormal, excessive, and involuntary reactions to harmless and unexpected sensory stimuli, compatible with the diagnosis of hyperekplexia. It is a pathology that involves the glycinergic system on a hereditary basis, and even if genetic pro...

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Bibliographic Details
Main Authors: Annibale Antonioni, Giovanni Peschi, Enrico Granieri
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Neurology
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00010/full