Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease

Afrantou, T., Lagoudaki, R., Papadopoulos, T., Karayannopoulou, G., Galidis, E., Migkos, K., … Grigoriadis, N. (2021). Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease. Seizure, 86, 49–51. https://doi.org/10.1016/j.seizure.2021.01.011