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

J 2021

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

DANHOFER, Pavlína, Michael ZECH, Zdenka BÁLINTOVÁ, Marek BALÁŽ, Robert JECH et. al.

Basic information

Original name

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

Authors

DANHOFER, Pavlína (203 Czech Republic, belonging to the institution), Michael ZECH, Zdenka BÁLINTOVÁ (703 Slovakia, belonging to the institution), Marek BALÁŽ (703 Slovakia, belonging to the institution), Robert JECH (203 Czech Republic, guarantor) and Hana OŠLEJŠKOVÁ (203 Czech Republic, belonging to the institution)

Edition

Movement Disorders Clinical Practice, Hoboken, Wiley, 2021, 2330-1619

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30210 Clinical neurology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 4.514

RIV identification code

RIV/00216224:14110/21:00121155

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1002/mdc3.13118

UT WoS

000756038200004

Keywords in English

Brittle Biballism-Dystonia; Pediatric Patient; GNAO1 Mutation; Deep Brain Stimulation

Abstract

V originále

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.

Links

ROZV/23/LF3/2019, interní kód MU

Name: Etiopatogeneze poruch autistického spektra (PAS): genetické a neuroimunologické aspekty

Investor: Ministry of Education, Youth and Sports of the CR, Internal development projects

ROZV/28/LF6/2020, interní kód MU

Name: Etiopatogeneze poruch autistického spektra (PAS): genetické a neuroimunologické aspekty

Investor: Ministry of Education, Youth and Sports of the CR, Internal development projects

Citovat

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.

@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.

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