Article
GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2024
Solis Gonzalo P, Larasati Yonika A, Thiel Moritz, Koval Alexey, Koy Anne, Katanaev Vladimir L
Abstract excerpt
BACKGROUND: 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. METHODS: We analyzed the clinical course of a child carrying the novel GNAO1 mutation c.38T>C;p.Leu13Pro,...
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