Aditya Ambati, Ryan Hillary, Smaranda Leu-Semenescu, Hanna M Ollila, Ling Lin, Emmanuel H During, Neal Farber, Thomas J Rico, Juliette Faraco, Eileen Leary, Andrea N Goldstein-Piekarski, Yu-Shu Huang, Fang Han, Yakov Sivan, Michel Lecendreux, Pauline Dodet, Makoto Honda, Natan Gadoth, Sona Nevsimalova, Fabio Pizza, Takashi Kanbayashi, Rosa Peraita-Adrados, Guy D Leschziner, Rosa Hasan, Francesca Canellas, Kazuhiko Kume, Makrina Daniilidou, Patrice Bourgin, David Rye, José L Vicario, Birgit Hogl, Seung Chul Hong, Guiseppe Plazzi, Geert Mayer, Anne Marie Landtblom, Yves Dauvilliers, Isabelle Arnulf, Emmanuel Jean-Marie Mignot
Kleine-Levin syndrome (KLS) is a rare disorder characterized by severe episodic hypersomnia, with cognitive impairment accompanied by apathy or disinhibition. Pathophysiology is unknown, although imaging studies indicate decreased activity in hypothalamic/thalamic areas during episodes. Familial occurrence is increased, and risk is associated with reports of a difficult birth. We conducted a worldwide case-control genome-wide association study in 673 KLS cases collected over 14 y, and ethnically matched 15,341 control individuals...
March 23, 2021: Proceedings of the National Academy of Sciences of the United States of America