Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.


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… (More)
DOI: 10.1016/j.ymgme.2017.06.009