Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

• Published in: Molecular genetics and metabolism Vol. 121; no. 4; pp. 314 - 319
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2017
• Subjects: 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

To interrogate the metabolic profile of five subjects from three families with rare, nonsense and missense mutations in SLC13A5 and Early Infantile Epileptic Encephalopathies (EIEE) characterized by severe, neonatal onset seizures, psychomotor retardation and global developmental delay. Mass spectro...