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Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
BACKGROUND: Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle stiffness, which both gradually subside during the first months of life. Although...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6417078/ https://ncbi.nlm.nih.gov/pubmed/30866851 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0779-x |
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