Innovative Journal Journal of Medical Biomedical and Applied Sciences 2277:4939 10 06 Phenotypic manifestations of the m.616T>C variant in MT-TF may be more diverse than anticipated 1 Josef Finsterer Neurological Department, Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria Journal Article https://doi.org/10.15520/ijmhs.v10i03.288 Abstract Patients carrying the m.616T>C variant in MT-TF may not only manifest with cerebral disease and mitochondrial tubule-interstitial kidney disease (MITKD), but also with phenotypic manifestation sin other organs if systematically looked for. Focal epilepsy in MITKD may be a clinical manifestation of a stroke-like lesion (SLL). If anti-seizures drugs (ASDs) fail to stop seizure activity in these patient, the ketogenic diet should be tried. Patients with a mitochondrial disorder affecting the respiratory chain may profit from the additional application of antioxidants and cofactors. Lorenz, Robin, Ahting, Uwe, Betzler, Cornelia, Heimering, Sigrid, Borggräfe, Ingo, Lange-Sperandio, Bärbel, Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia, Nephron, 2020, 144, 3, 156, 160, 1660-8151, 2235-3186, 10.1159/000504412, S. Karger AG, https://dx.doi.org/10.1159/000504412 Chen, X, He, X Y, Zhu, C, Zhang, Y, Li, Z, Liu, Y, Zhang, Y, Yin, T, Li, Y, Interaction between mitochondrial NADH dehydrogenase subunit-2 5178 C > A and clinical risk factors on the susceptibility of essential hypertension in Chinese population, BMC Med Genet, 2019, 20, 1, 121, 121 Ułamek-Kozioł, Marzena, Czuczwar, Stanisław J., Januszewski, Sławomir, Pluta, Ryszard, Ketogenic Diet and Epilepsy, Nutrients, 2019, 11, 10, 2510, 2510, 2072-6643, 10.3390/nu11102510, MDPI AG, https://dx.doi.org/10.3390/nu11102510 Finsterer, J, Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes, J Neurol Sci, 2019, 400, 135, 141 Nesti, Claudia, Rubegni, Anna, Tolomeo, Deborah, Baldacci, Jacopo, Cassandrini, Denise, D’Amore, Francesca, Santorelli, Filippo M., Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation, Neurological Sciences, 2019, 40, 8, 1705, 1708, 1590-1874, 1590-3478, 10.1007/s10072-019-03864-w, Springer Science and Business Media LLC, https://dx.doi.org/10.1007/s10072-019-03864-w