Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle - Bainbridge, Matthew N.; Cooney, Erin; Miller, Marcus; Kennedy, Adam D.; Wulff, Jacob E.; Donti, Taraka; Jhangiani, Shalini N.; Gibbs, Richard A.; Elsea, Sarah H.; Porter, Brenda E.; Graham, Brett H. (Molecular genetics and metabolism, 2017)
Keywords: Child; Citric Acid - blood; Citric Acid Cycle; Female; Humans; Infant, Newborn; Male; Mass Spectrometry; Metabolome; Metabolomics; Metabolomics - methods; Mutation; Mutation, Missense; Seizure; Seizures - metabolism; SLC13A5; Spasms, Infantile - diagnosis; Spasms, Infantile - metabolism; Symporters - deficiency; Symporters - genetics; Tricarboxylic acid cycle; Whole Exome Sequencing; Tricarboxylic acid cycle; Metabolomics; Seizure; SLC13A5