Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation.
作者信息
Danhofer Pavlína, Zech Michael, Bálintová Zdenka, Baláž Marek, Jech Robert, Ošlejšková Hana
机构信息
Department of Child Neurology Faculty of Medicine of Masaryk University Brno, University Hospital Brno Brno Czech Republic.
Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany.
出版信息
Mov Disord Clin Pract. 2021 Jan 4;8(1):153-155. doi: 10.1002/mdc3.13118. eCollection 2021 Jan.
Abstract
摘要
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本文引用的文献
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Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.深部脑刺激对 GNAO1 相关严重运动过度的儿科患者有效。
J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22.
2
GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.伴有危及生命的病情加重的GNAO1相关运动障碍：运动现象学及对脑深部电刺激的反应
J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):221-222. doi: 10.1136/jnnp-2017-315653. Epub 2017 Jul 1.
3
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.6例因GNAO1突变导致严重且独特运动障碍的儿童的临床病程
Pediatr Neurol. 2016 Jun;59:81-4. doi: 10.1016/j.pediatrneurol.2016.02.018. Epub 2016 Mar 17.
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Status dystonicus: a practice guide.(status dystonicus): 实践指南。
Dev Med Child Neurol. 2014 Feb;56(2):105-12. doi: 10.1111/dmcn.12339. Epub 2013 Dec 4.
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De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.GNAO1 基因中的新生突变，该基因编码异三聚体 G 蛋白的 Gαo 亚基，可导致癫痫性脑病。
Am J Hum Genet. 2013 Sep 5;93(3):496-505. doi: 10.1016/j.ajhg.2013.07.014. Epub 2013 Aug 29.
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