Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

Por Rumping, Lynne, Büttner, Benjamin, Maier, Oliver, Rehmann, Holger, Lequin, Maarten, Schlump, Jan-Ulrich, Schmitt, Bernhard, Schiebergen-Bronkhorst, Birgit, Prinsen, Hubertus C. M. T., Losa, Michele, Fingerhut, Ralph, Lemke, Johannes R., Zwartkruis, Fried J. T., Houwen, Roderick H. J., Jans, Judith J. M., Verhoeven-Duif, Nanda M., van Hasselt, Peter M., Jamra, Rami
Publicado no JAMA Neurol (2018)