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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026473/ https://www.ncbi.nlm.nih.gov/pubmed/32116999 http://dx.doi.org/10.3389/fneur.2020.00010 |