Raffaele Falsaperla, Vincenzo Sortino, Simona Domenica Marino, Ausilia Desiree Collotta, Carmela Gammeri, Federica Maria Sipala, Giovanni Li Volti, Martino Ruggieri, Simone Ronsisvalle
INTRODUCTION: GNAO1 encephalopathy is characterized by severe hypotonia, psychomotor retardation, epilepsy, and movement disorders. Genetic variations in GNAO1 have been linked to neurological symptoms including movement disorders like dystonia. The correlation between the E246K mutation in the Gα subunit and aberrant signal transduction of G proteins has been established but no data are reported regarding the efficacy of medical treatment with tetrabenazine. METHODS: Molecular modeling studies were performed to elucidate the molecular mechanisms underlying this mutation...
April 6, 2024: Molecular Diagnosis & Therapy