Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review.
Kristen N WongLorenzo D BottoMiao HePeter R BakerAdeline L VanderverJoshua Leith BonkowskyPublished in: Neurology. Genetics (2023)
Our case series highlights the importance of reanalysis of next-generation sequencing in the diagnostic workup.