Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.

Abstract excerpt

Brain monoamine vesicular transporter deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the SLC18A2 gene, which encodes vesicular monoamine transporter 2 (VMAT2). VMAT2 is essential for packaging neurotransmitters such as dopamine, serotonin, norepinephrine, and histamine into synaptic vesicles. Its deficiency results in disrupted neurotransmission and a characteristic...

Topics

• Humans
• Male
• Vesicular Monoamine Transport Proteins
• Infant
• Mutation
• Genotype
• Developmental Disabilities