Abstract:
:The paroxysmal dyskinesias (PxDs) are involuntary, intermittent movement disorders manifested by dystonia, chorea, athetosis, ballismus or any combination of these hyperkinetic disorders. Paroxysmal kinesigenic dyskinesia (PKD), one of the four main types of PxD, involves sudden attacks of dyskinesias induced by voluntary movements. PKD most commonly occurs sporadically or as an autosomal-dominant familial trait with variable penetrance. Many causes of secondary PKD are being recognized. The exact pathophysiology of the PxDs awaits further elucidation, although basal ganglia dysfunction appears to play a major role. Although the precise gene remains unknown, genetic linkage studies have isolated loci on chromosome 16, which colocalizes with the locus for familial infantile convulsions and paroxysmal choreoathetosis in some studies. The episodic nature of PKD and its relationship with other episodic diseases, such as epilepsy, migraine, and episodic ataxia, suggests channelopathy as a possible underlying etiology. PKD may remit spontaneously, but it also responds well to anticonvulsants as well as some other agents.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Lotze T,Jankovic Jdoi
10.1016/s1071-9091(02)00012-8keywords:
subject
Has Abstractpub_date
2003-03-01 00:00:00pages
68-79issue
1eissn
1071-9091issn
1558-0776pii
S1071-9091(02)00012-8journal_volume
10pub_type
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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doi:10.1053/spen.2001.23456
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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abstract::Transition from pediatric to adult healthcare is a well-established challenge for individuals with neurodevelopmental disorders like cerebral palsy. With regard to ethics, some of the key aspects to explore include the following: if and how individuals feel respected during the transition process; if and how their val...
journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
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journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
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abstract::A 13-year-old boy with Lennox-Gastaut syndrome characterized by absence, myoclonic, complex-partial, and secondarily generalized tonic-clonic seizures, presents with progressive obtundation and loss of motor and verbal skills over a 2-day period. Initial evaluation revealed therapeutic phenytoin serum concentrations. ...
journal_title:Seminars in pediatric neurology
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