Muylle, E., Jiang, H., Johnsen, C., Byeon, S. K., Ranatunga, W., Garapati, K., Zenka, R. M., Preston, G., Pandey, A., Kozicz, T., Fang, F., Morava, E. (2022). TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels. Journal of Inherited Metabolic Disease. [PubMed]