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Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis
BACKGROUND: GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations....
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| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7724837/ https://ncbi.nlm.nih.gov/pubmed/33298085 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01594-3 |
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