A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16

Paroxysmal kinesigenic choreoathetosis (PKC) is a rare paroxysmal movement disorder characterized by recurrent and brief attacks of choreiform or dystonic movements triggered or exacerbated by sudden voluntary movements. Some patients with PKC also have a history of infantile afebrile convulsions. P...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2000-10, Vol.123 (10), p.2040-2045
Hauptverfasser:	Valente, E. M., Spacey, S. D., Wali, G. M., Bhatia, K. P., Dixon, P. H., Wood, N. W., Davis, M. B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Athetosis - genetics Biological and medical sciences Child Chorea - genetics chromosome 16 Chromosome Mapping Chromosomes, Human, Pair 16 Family Health Genetic Linkage Genetic Markers Haplotypes Humans ICCA = infantile convulsions and paroxysmal choreoathetosis linkage studies Medical sciences Multigene Family - genetics Nervous system (semeiology, syndromes) Nervous system as a whole Neurology paroxysmal dyskinesia paroxysmal kinesigenic choreoathetosis PKC = paroxysmal kinesigenic choreoathetosis RE-PED-WC = rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp
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