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Article

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.

Annals of human genetics - 1 Jul 2020

Heidari Erfan, Razmara Ehsan, Hosseinpour Sareh, Tavasoli Ali Reza, Garshasbi Masoud

Abstract excerpt

The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric disorders. Dopamine transporter deficiency syndrome (DTDS) is a complex disease caused by defects in dopamine uptake within the synaptic cleft and patients manifest...

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PMID: 32077500
DOI: 10.1111/ahg.12378

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