A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

Abstract Background Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in SLC18A2, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoamines into synaptic vesicles and of serotonin into...

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Bibliographic Details
Main Authors: Manisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, Lieven Lagae, Daniel Greene, Chantal Thys, Chris Van Geet, NIHR BioResource, Kathleen Stirrups, Kate Downes, Ernest Turro, Kathleen Freson
Format: Article
Language:English
Published: Wiley 2019-05-01
Series:JIMD Reports
Subjects:
epilepsy
platelet dense granules
serotonin
vesicular monoamine transporter 2
whole genome sequencing
Online Access:https://doi.org/10.1002/jmd2.12030

Internet

https://doi.org/10.1002/jmd2.12030

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