Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report.

ABSTRACT:

Background

GNAO1 variants have been found to be associated with epileptic encephalopathies, developmental delays (DDs), and movement disorders (MDs). Therapies for patients with GNAO1 variants vary. However, treatments for GNAO1-related diseases are still in their infancy. Previous reports suggest that few pharmacological treatments are effective for patients with GNAO1 variant-related MDs. Deep brain stimulation (DBS) treatment appears to be effective, however surgical procedures and equipment failures pose risks to the patients. Effectiveness for oxcarbazepine (OXC) in GNAO1 variant-related MDs is first reported in our study, and it expand the effective drugs for MD treatment.

Case description

We report the case of a 5-year-old male patient with

SUBMITTER: Ling W 

PROVIDER: S-EPMC9561508 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature