Ángel Aledo-Serrano, Adrián Valls-Carbó, Christina D Fenger, Gudrun Groeppel, Till Hartlieb, Irene Pascual, Erika Herraez, Borja Cabal, Irene García-Morales, Rafael Toledano, Marcelo Budke, Álvaro Beltran-Corbellini, Sara Baldassari, Roland Coras, Katja Kobow, David M Herrera, Antonio Del Barrio, Hans Atli Dahl, Isabel Del Pino, Stéphanie Baulac, Ingmar Blumcke, Rikke S Møller, Antonio Gil-Nagel
MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encoding a UDP-galactose transporter. Previous research showed that D-galactose supplementation results in clinical improvement in patients with a congenital disorder of glycosylation due to germline variants in SLC35A2. We aimed to evaluate the effects of D-galactose supplementation in patients with histopathologically confirmed MOGHE, with uncontrolled seizures or cognitive impairment and epileptiform activity at the EEG after epilepsy surgery (NCT04833322)...
June 6, 2023: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics