Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

Abstract 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 present...

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Bibliographic Details
Main Authors: Soo Yeon Kim, YoungKyu Shim, Young Joon Ko, Soojin Park, Se Song Jang, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae
Format: Article
Language:English
Published: BMC 2020-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
GNAO1
GNAO1 encephalopathy
Movement disorder
Early-onset dystonia
Early-onset chorea
Online Access:https://doi.org/10.1186/s13023-020-01594-3

Internet

https://doi.org/10.1186/s13023-020-01594-3

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