Journal
JOURNAL OF CHILD NEUROLOGY
Volume 27, Issue 3, Pages 389-391Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073811420871
Keywords
falls; dystonia; dopa-responsive; GTP
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Funding
- NCRR NIH HHS [UL1 RR025755] Funding Source: Medline
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Guanine triphosphate (GTP)-cyclohydrolase 1 (GCH1)-deficient dopa-responsive dystonia is caused by GCH1 gene mutation. Two children presenting with frequent daily falling are reported with GCH1 gene mutations with persistent response to low-dose levodopa/carbidopa. Typical and atypical clinical features associated with GCH1 mutations are also reviewed.
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