Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches

Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in the <i>SLC6A3</i> gene. Advances in genomic analysis have revealed an evolving spectrum of <i>SLC6A3&...

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Bibliographic Details
Main Authors: Joanne Ng, Serena Barral, Simon N. Waddington, Manju A. Kurian
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Cells
Subjects:
dopamine transporter deficiency syndrome
infantile parkinsonism-dystonia
neurotransmitter
gene therapy
<i>SLC6A3</i>
DAT
Online Access:https://www.mdpi.com/2073-4409/12/13/1737

Internet

https://www.mdpi.com/2073-4409/12/13/1737

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