Potocki-Lupski Syndrome (PTLS)

Potocki-Lupski Syndrome, also known as 17p11.2 microduplication syndrome, is related to autism spectrum disorder and smith-magenis syndrome. An important gene associated with Potocki-Lupski Syndrome is FLCN (Folliculin), and among its related pathways/superpathways are Smith-Magenis and Potocki-Lupski syndrome copy number variation and Lissencephaly gene (LIS1) in neuronal migration and development. The drugs Milnacipran and Norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart and kidney, and related phenotypes are failure to thrive and dysarthria