Genotype–phenotype correlation and treatment effects in young patients withGNAO1-associated disorders

Abstract excerpt

Background Patients carrying pathogenic variants inGNAO1often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement disorder is a common phenotype. A genotype–phenotype correlation has not yet been described and there are no evidence-based therapeutic recommendations. Methods To improve...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Epilepsy research and treatment
• Share to Genomics and Rare Diseases
• Share to Neurogenetic and Muscular Disorders Research