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Paper Details

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
14
2023
Brain monoamine vesicular transport disease, C. elegans, Caenorhabditis elegans, Ile43Phe, Pro237His, Pro387Leu, SLC18A2, SLC18A2 variant alleles, SLC18A2 variants, SLC18A2-related disorders, Slc18a2, autonomic nervous system involvement, cerebral palsy, dopamine, dystonia, gastrointestinal dysmotility, global developmental delay, hypersalivation, hypotonia, monoamine, movement disorder, oculogyric crisis, p, patients, rat, rat VMAT2, sweating, temperature dysregulation
Author NameAffiliation
Alistair T PagnamentaNIHR Oxford Biomedical Research Centre, University of Oxford
Maha S ZakiHuman Genetics and Genome Research Institute, National Research Centre
Petter Str??mmeOslo University Hospital and University of Oslo
Jennifer E PoseyBaylor College of Medicine
Fowzan S AlkurayaCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University
Joseph G GleesonUniversity of California San Diego, CA Rady Children's Institute for Genomic Medicine
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital
Henry HouldenUCL Queen Square Institute of Neurology, University College London
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