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Article

Spectrum of Movement Disorders in GNAO1 Encephalopathy: In-Depth Phenotyping and Case-by-Case Analysis

2020-10-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> 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.<bold>Results:</bold> Six patients who participated in Korean Undiagnosed Dis...

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Literature Corpus work
36071168-5a74-57fc-bcad-b615937ac614
DOI
10.21203/rs.3.rs-60924/v2
Open publication

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Spectrum of Movement Disorders in GNAO1 Encephalopathy: In-Depth Phenotyping and Case-by-Case AnalysisDOI 10.21203/rs.3.rs-60924/v2
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