منابع مشابه
Paroxysmal dyskinesias in the lethargic mouse mutant.
Lethargic mutant mice carry a mutation in the CCHB4 gene, which encodes the beta4 subunit of voltage-regulated calcium channels. These mutants have been shown to display a complex neurobehavioral phenotype that includes EEG discharges suggestive of absence epilepsy, chronic ataxia, and hypoactivity. The current studies demonstrate a fourth element of their phenotype, consisting of transient att...
متن کاملDystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of h...
متن کاملClassification of involuntary movements in dogs: Paroxysmal dyskinesias.
Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically no...
متن کاملThe clinical and genetic heterogeneity of paroxysmal dyskinesias.
Paroxysmal dyskinesia can be subdivided into three clinical syndromes: paroxysmal kinesigenic dyskinesia or choreoathetosis, paroxysmal exercise-induced dyskinesia, and paroxysmal non-kinesigenic dyskinesia. Each subtype is associated with the known causative genes PRRT2, SLC2A1 and PNKD, respectively. Although separate screening studies have been carried out on each of the paroxysmal dyskinesi...
متن کاملParoxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
BACKGROUND Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. PHENOMENOLOGY SHOWN Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. EDUCATIONAL VALUE Proper identification of the paroxysmal events and early diagnos...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2003
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-17-9-2