GNAO1 Mutations Affecting the N‐Terminal α‐Helix of Gαo Lead to Parkinsonism
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.29720
Abstract: Patients carrying pathogenic variants in GNAO1 present a phenotypic spectrum ranging from severe early‐onset epileptic encephalopathy and developmental delay to mild adolescent/adult‐onset dystonia. Genotype–phenotype correlation and molecular mechanisms underlying the disease remain understudied. read more here.
Keywords: helix lead; mutations affecting; gnao1 mutations; affecting terminal ... See more keywords