DANHOFER, Pavlína, Michael ZECH, Zdenka BÁLINTOVÁ, Marek BALÁŽ, Robert JECH and Hana OŠLEJŠKOVÁ. Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation. Movement Disorders Clinical Practice. Hoboken: Wiley, 2021, vol. 8, No 1, p. 153-155. ISSN 2330-1619. Available from: https://dx.doi.org/10.1002/mdc3.13118. |
Other formats:
BibTeX
LaTeX
RIS
@article{1744196, author = {Danhofer, Pavlína and Zech, Michael and Bálintová, Zdenka and Baláž, Marek and Jech, Robert and Ošlejšková, Hana}, article_location = {Hoboken}, article_number = {1}, doi = {http://dx.doi.org/10.1002/mdc3.13118}, keywords = {Brittle Biballism-Dystonia; Pediatric Patient; GNAO1 Mutation; Deep Brain Stimulation}, language = {eng}, issn = {2330-1619}, journal = {Movement Disorders Clinical Practice}, title = {Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation}, url = {https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.13118}, volume = {8}, year = {2021} }
TY - JOUR ID - 1744196 AU - Danhofer, Pavlína - Zech, Michael - Bálintová, Zdenka - Baláž, Marek - Jech, Robert - Ošlejšková, Hana PY - 2021 TI - Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation JF - Movement Disorders Clinical Practice VL - 8 IS - 1 SP - 153-155 EP - 153-155 PB - Wiley SN - 23301619 KW - Brittle Biballism-Dystonia KW - Pediatric Patient KW - GNAO1 Mutation KW - Deep Brain Stimulation UR - https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.13118 N2 - 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 α-subunit of a heterotrimeric guanine nucleotide-binding protein (Gαo) 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. ER -
DANHOFER, Pavlína, Michael ZECH, Zdenka BÁLINTOVÁ, Marek BALÁŽ, Robert JECH and Hana OŠLEJŠKOVÁ. Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation. \textit{Movement Disorders Clinical Practice}. Hoboken: Wiley, 2021, vol.~8, No~1, p.~153-155. ISSN~2330-1619. Available from: https://dx.doi.org/10.1002/mdc3.13118.
|