Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability
Authors: Aguan D Wei; Paul Wakenight; Theresa A Zwingman; Angela M Bard; Nikhil Sahai; Marjolein H Willemsen; Helenius J. Schelhaas; Alexander P.A. Stegmann; Judith S. Verhoeven; Stella A de Man; Marja W Wessels; Tjitske Kleefstra; Deepali N. Shinde; Katherine L. Helbig; Alice Basinger; Victoria F Wagner; David Rodriguez-Buritica; Emily Bryant; John J. Millichap; Kathleen J Millen; William B Dobyns; Jan-Marino Ramirez; Franck K Kalume
Collaborators: Academic Centre for Epileptology Kempenhaeghe; Amphia Hospital; Center for Genetic Medicine, Northwestern University; Cook Children's Medical Center; Erasmus Medical Centre; Femme Mère Enfant Hospital; Human Genetics Department, Radboud University Medical Center; Maastricht University Medical Center; Seattle Children's Research Institute; Stanley Manne Children's Research Institute, affiliated with Ann & Robert H. Lurie Children's Hospital of Chicago; University of Texas Health Science Center at Houston; University of Washington