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Article

Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K Variant.

Molecular diagnosis & therapy - 1 May 2024

Falsaperla Raffaele, Sortino Vincenzo, Marino Simona Domenica, Collotta Ausilia Desiree, Gammeri Carmela, Sipala Federica Maria, Volti Giovanni Li, Ruggieri Martino, Ronsisvalle Simone

Abstract excerpt

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...

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PMID: 38581611
DOI: 10.1007/s40291-024-00706-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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