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本文引用的文献

1
Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.发作性催眠相关运动障碍与 PRRT2 基因突变有关。
Neurol Genet. 2016 Mar 22;2(2):e66. doi: 10.1212/NXG.0000000000000066. eCollection 2016 Apr.
2
International classification of sleep disorders-third edition: highlights and modifications.国际睡眠障碍分类第三版:要点和修改。
Chest. 2014 Nov;146(5):1387-1394. doi: 10.1378/chest.14-0970.
3
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.遗传性婴儿早期良性癫痫的基因检测:临床与诊断意义。
Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.
4
Polysomnographic recording of a child with paroxysmal hypnogenic dyskinesia and NREM parasomnia.
Sleep Med. 2013 Feb;14(2):215-6. doi: 10.1016/j.sleep.2012.10.021. Epub 2012 Dec 11.
5
The paroxysmal dyskinesias.发作性运动障碍
Pract Neurol. 2009 Apr;9(2):102-9. doi: 10.1136/jnnp.2009.172213.
6
Classification conundrums in paroxysmal dyskinesias: a new subtype or variations on classic themes?发作性运动障碍的分类难题:一种新亚型还是经典类型的变体?
Mov Disord. 2005 Aug;20(8):1047-51. doi: 10.1002/mds.20496.
7
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.烟碱型受体β2亚基在夜间额叶癫痫中发生突变。
Nat Genet. 2000 Nov;26(3):275-6. doi: 10.1038/81566.
8
Paroxysmal dyskinesias: clinical features and classification.发作性运动障碍:临床特征与分类
Ann Neurol. 1995 Oct;38(4):571-9. doi: 10.1002/ana.410380405.
9
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.神经元烟碱型乙酰胆碱受体α4亚基的错义突变与常染色体显性遗传性夜间额叶癫痫相关。
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10
Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?催眠性阵发性肌张力障碍:癫痫发作还是一种新综合征?
Sleep. 1981;4(2):129-38. doi: 10.1093/sleep/4.2.129.

阵发性催眠性运动障碍病例报告:临床特征与治疗

A case presentation of paroxysmal hypnogenic dyskinesia: clinical features and management.

作者信息

Ayas Selahattin

机构信息

Department of Clinical Neurophysiology, Eskişehir City Hospital, Eskişehir, Turkey.

出版信息

Sleep Biol Rhythms. 2023 Oct 27;22(1):147-150. doi: 10.1007/s41105-023-00499-5. eCollection 2024 Jan.

DOI:10.1007/s41105-023-00499-5
PMID:38476853
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10899913/
Abstract

UNLABELLED

Paroxysmal Hypnogenic Dyskinesia (PHD) is a rare movement disorder characterized by involuntary movements, including chorea, athetosis, ballismus, and dystonia, which occur during the Non-Rapid Eye Movement (NREM) sleep stage. Therefore, the diagnosis of PHD is highly crucial due to the presence of differential diagnoses such as epilepsy and other sleep disorders. Although numerous mutations have been identified, the etiology of PHD, which arises from dysregulation in basal ganglia functions, remains unclear. We wanted to present a case of a nineteen-year-old girl diagnosed with PHD to draw attention to the diagnosis, etiology, and treatment of PHD.

SUPPLEMENTARY INFORMATION

The online version contains supplementary material available at 10.1007/s41105-023-00499-5.

摘要

未标注

阵发性睡眠性运动障碍(PHD)是一种罕见的运动障碍,其特征为在非快速眼动(NREM)睡眠阶段出现不自主运动,包括舞蹈样动作、手足徐动症、投掷症和肌张力障碍。因此,由于存在癫痫和其他睡眠障碍等鉴别诊断,PHD的诊断至关重要。尽管已鉴定出许多突变,但由基底神经节功能失调引起的PHD病因仍不清楚。我们想介绍一例被诊断为PHD的19岁女孩的病例,以引起对PHD诊断、病因和治疗的关注。

补充信息

在线版本包含可在10.1007/s41105-023-00499-5获取的补充材料。