SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M.
Dewulf JP, et al. Among authors: wiame e.
Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29.
Ann Neurol. 2019.
PMID: 30635937