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

Soo Yeon KimYoungKyu ShimYoung Joon KoSoojin ParkSe Song JangByung Chan LimKi Joong KimJong-Hee Chae

Published in: Orphanet journal of rare diseases (2020)

We reported 6 patients with GNAO1 encephalopathy showing an extremely diverse clinical spectrum on video. Some characteristic movement features identified by careful inspection may also provide important diagnostic insight and practice guidelines.

Keyphrases

early onset
primary care
healthcare
high throughput
optical coherence tomography
clinical practice
single cell
data analysis