Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
Daniel G. Calame, Sho Yano(National Institutes of Health), Marwan Shinawi(St. Louis Children's Hospital), Timothy Lotze(Baylor College of Medicine), Miguel Holmgren(National Institutes of Health), Sruthi P. Thomas(Baylor College of Medicine), Florencia Del Viso(Yale University), Isabelle Thiffault(Children's Mercy Hospital), Ali Fatemi(Kennedy Krieger Institute), Cristina Moreno Vadillo(National Institutes of Health), Tomi Pastinen(Children's Mercy Hospital), Corina Heller(Praxis für Humangenetik Tübingen), Clara Gómez‐González(Hospital Universitario La Paz), Aida Telegrafi(GenVec), Debra S. Regier(Children's National), Kaylene Fiala(Comer Children's Hospital), Saskia Biskup(Praxis für Humangenetik Tübingen), Javaher Poupak(Zentrum für Labormedizin), Julie S. Cohen(Kennedy Krieger Institute), Rosa J. Torres(Instituto de Salud Carlos III), Dragan Maric(National Institute of Neurological Disorders and Stroke), Seth Berger(Children's National), Samuel Ignacio Pascual Pascual(Hospital Universitario La Paz), Carmen Prior(Hospital Universitario La Paz), Chalongchai Phitsanuwong(Comer Children's Hospital), James R. Lupski(Baylor College of Medicine), Richard Person(GenVec), Dihong Zhou(Children's Mercy Hospital)
Cited by 13
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k