期刊
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
卷 60, 期 6, 页码 559-+出版社
WILEY
DOI: 10.1111/dmcn.13744
关键词
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资金
- Department of Health [RP-2016-07-019] Funding Source: Medline
- National Institutes of Health Research (NIHR) [RP-2016-07-019] Funding Source: National Institutes of Health Research (NIHR)
As a consequence of the genomic revolution, a large number of publications describing paroxysmal movement disorders have been published in the last few years, shedding light on their molecular pathology. Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis. Antiepileptic drugs remain the treatment of choice for PKD and episodic ataxia type 1, benzodiazepines are often useful for PNKD, and episodic ataxia type 2 benefits from acetazolamide regardless of the genetic etiology.
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