Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation

Abstrakt

Authors report a case of a 12 year- old -boy with GNAO1 mutation who presented with severe biballistic symptomatology with dystonic features (DSAP 3) and required emergency deep brain stimulation (DBS) to avoid life threatening symptoms

Klíčová slova

• Dystonia
• biballism
• epilepsy
• neurosurgery
• next-generation sequencing