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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Detalles Bibliográficos
Autores principales: Kim, Soo Yeon, Shim, YoungKyu, Ko, Young Joon, Park, Soojin, Jang, Se Song, Lim, Byung Chan, Kim, Ki Joong, Chae, Jong-Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7724837/
https://www.ncbi.nlm.nih.gov/pubmed/33298085
http://dx.doi.org/10.1186/s13023-020-01594-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7724837/
https://www.ncbi.nlm.nih.gov/pubmed/33298085
http://dx.doi.org/10.1186/s13023-020-01594-3

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