Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: Report of two Southern European families

European Journal of Paediatric Neurology

Volumn 16, Issue 1, 2012, Pages 86-89

  Pons, Roser ^a   Cuenca León, Ester ^b   Miravet, Elena ^c   Pons, Montse ^c   Xaidara, Athina ^a   Youroukos, Sotiris ^a   MacAya, Alfons ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

Author keywords

Autosomal dominant; Choreoathetosis; Dystonia; Levetiracetam; Southern Europe; Valproic acid

Indexed keywords

ALCOHOL; ETIRACETAM; VALPROIC ACID;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CHOREA; COFFEE; DYSKINESIA; FAMILIAL DISEASE; FATIGUE; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; MENSTRUATION; PENETRANCE; PNKD GENE; PRIORITY JOURNAL; SOUTHERN EUROPE; STRESS; TREATMENT RESPONSE;

ADOLESCENT; CHILD, PRESCHOOL; CHOREA; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUSCLE PROTEINS; PEDIGREE; POINT MUTATION; YOUNG ADULT;

EID: 84655169098     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.09.008     Document Type: Article

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