| 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. Online. 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. [citováno 2024-04-23] |
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@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. Online. \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. [citováno 2024-04-23]
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