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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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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2020
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| 主題: | |
| オンライン･アクセス: | 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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