Dopa-responsive Dystonia
What's New
Last Posted: Mar 10, 2023
- c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.
Shalash Ali S, et al. Neurology. Genetics 2017 0 (6) e197 - Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.
Chen Yan, et al. Frontiers in pediatrics 2020 0 83 - Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients.
Timmers Elze R, et al. Clinical epigenetics 2022 0 (1) 170 - High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.
Wu-Chou Yah-Huei, et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010 0 (4) 903-8 - Clinical Management of Dystonia in Childhood.
Luc Quyen N et al. Paediatric drugs 2017 Oct 19(5) 447-461 - Study of GCH1 and TH genes in Chinese patients with Parkinson's disease.
Yan Ya-Ping, et al. Neurobiology of aging 2018 0 159.e3-159.e6 - Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.
Nasser Arafat, et al. Pain 2018 6 (6) 1012-1024 - Common and rare GCH1 variants are associated with Parkinson's disease.
Rudakou Uladzislau, et al. Neurobiology of aging 2018 9 - CLINGEN Actionability Report for Dopa-Responsive Dystonia - RB1
ClinGen Actionability Working Group - Prenatal Genetic Testing for Dopa-Responsive Dystonia - Clinical Judgment in the Context of Next Generation Sequencing.
Nedelea Florina et al. Journal of medicine and life 11(4) 343-345
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
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