Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
Jessica Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Alves, Ian M. Campbell, Sanmati Cuddapah, Nicole Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca Ganetzky
Abstract
variants.
Topics & Concepts
Malate dehydrogenaseCitrate synthaseBiologyCitric acid cycleEncephalopathyMitochondrionEndocrinologyInternal medicineBiochemistryMedicineEnzymeMetabolismMitochondrial Function and PathologyMetabolism and Genetic DisordersEpilepsy research and treatment