Hyperekplexia 3 (HKPX3)

Hyperekplexia 3, also known as hkpx3, is related to hartnup disorder and periodic limb movement disorder, and has symptoms including muscular stiffness An important gene associated with Hyperekplexia 3 is SLC6A5 (Solute Carrier Family 6 Member 5), and among its related pathways/superpathways is superpathway of L-citrulline metabolism. Related phenotypes are exaggerated startle response and hypertonia