Informace o publikaci
Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation
| Autoři | |
|---|---|
| Rok publikování | 2021 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Movement Disorders Clinical Practice |
| Fakulta / Pracoviště MU | |
| Citace | |
| www | https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.13118 |
| Doi | http://dx.doi.org/10.1002/mdc3.13118 |
| Klíčová slova | Brittle Biballism-Dystonia; Pediatric Patient; GNAO1 Mutation; Deep Brain Stimulation |
| Popis | Early onset movement disorders are a clinically and genetically heterogenous group of disorders. Mutations in GNAO1 were first reported in patients with Ohtahara syndrome and early infantile epileptic encephalopathy 17 (EIEE17). GNAO1 (guanine nucleotide-binding protein 1) encodes the ?-subunit of a heterotrimeric guanine nucleotide-binding protein (G?o) which is the most abundant membrane protein in the mammalian central nervous system.The early recognition of worsening extrapyramidal symptoms may facilitate intervention or prevent progression to status dystonicus. A dystonia severity and action plan (DSAP, grades 1–5) can be very useful in assessing the threat of status dystonicus. |