Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Amaia Lasa-Aranzasti Yonika Arum LarasatiJuliana da Silva CardosoGonzalo P SolisAlexey KovalAna Cazurro-GutiérrezJuan Dario Ortigoza-EscobarMaria Concepción MirandaBeatriz De la Casa-FagesAntonio Moreno-GaldóEduardo F TizzanoDavid Gómez-AndrésEdgard VerduraVladimir L Katanaev Belen Perez-Duenasnull null

Published in: Movement disorders : official journal of the Movement Disorder Society (2024)

We highlight the complexity of the motor phenotype, which is characterized by fluctuations throughout the day, and hyperkinetic crisis with a distinct post-hyperkinetic crisis state. We confirm a molecular-based genotype-phenotype correlation for specific variants. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

public health
single molecule
copy number
randomized controlled trial
gene expression
dna methylation
genome wide