Familial paroxysmal exercise-induced dystonia: Atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency

Developmental Medicine and Child Neurology

Volumn 52, Issue 6, 2010, Pages 583-586

  Dale, Russell C ^a   Melchers, Anna ^b   Fung, Victor Sc ^c   Grattan Smith, Padraic ^a   Houlden, Henry ^b   Earl, John ^d  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF SYDNEY   (Australia)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIDEPRESSANT AGENT; BENSERAZIDE PLUS LEVODOPA; CARBAMAZEPINE; FLUOXETINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; MONOAMINE; NEUROTRANSMITTER; PTERIN DERIVATIVE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILDHOOD; CLINICAL FEATURE; DEPRESSION; DYSKINESIA; DYSTONIA; ENZYME DEFICIENCY; EXERCISE; EXON; FAMILY STUDY; FEMALE; GRANDPARENT; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I DEFICIENCY; HUMAN; MALE; MOTHER; MOVEMENT (PHYSIOLOGY); NONSENSE MUTATION; PARKINSONISM; PRIORITY JOURNAL; REST; RESTLESS LEGS SYNDROME;

ADULT; AGE OF ONSET; AGED; ANTIPARKINSON AGENTS; CHILD; CODON, NONSENSE; DEPRESSIVE DISORDER; DYSTONIA; EXERCISE; EXONS; FAMILY; FEMALE; GTP CYCLOHYDROLASE; HUMANS; LEVODOPA; MALE; PARKINSONIAN DISORDERS; PEDIGREE; RESTLESS LEGS SYNDROME;

EID: 77953940705     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03619.x     Document Type: Article

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