Article
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Molecular genetics and metabolism - 1 Aug 2017
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
Abstract excerpt
OBJECTIVE: 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. METHODS: Mass spectrometry of plasma, CSF and urine was used to identify consistently dysregulated analytes in our...
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