PMID36047296

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]