Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter

Movement Disorders

Volumn 26, Issue 2, 2011, Pages 337-340

  Bodzioch, Marek ^a,b   Lapicka Bodzioch, Katarzyna ^a   Rudzinska, Monika ^a   Pietrzyk, Jacek J ^b   Bik Multanowski, Miroslaw ^b   Szczudlik, Andrzej ^a  

^a JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^b JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

Dopa responsive dystonia; Dystonic encephalopathy; GCH1; GTP cyclohydrolase 1 deficiency; Promoter

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; DISEASE ASSOCIATION; DYSTONIA; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPERPHENYLALANINEMIA; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SEVERE DYSTONIC ENCEPHALOPATHY;

CHILD; DYSTONIC DISORDERS; ENCEPHALITIS; GTP CYCLOHYDROLASE; HUMANS; MALE; PEDIGREE; PHENYLKETONURIAS; PROMOTER REGIONS, GENETIC; SEQUENCE DELETION;

EID: 79952638280     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23364     Document Type: Article

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