Expanding the Genotypic Spectrum of SLC18A2 Mutation–Related Disorder—A Novel Mutation and Review of Literature
Published online on March 10, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
Brain monoamine vesicular transporter deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in theSLC18A2gene, which encodes vesicular monoamine transporter 2 (VMAT2). VMAT2 is essential for packaging neurotransmitters ...
Brain monoamine vesicular transporter deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in theSLC18A2gene, which encodes vesicular monoamine transporter 2 (VMAT2). VMAT2 is essential for packaging neurotransmitters ...