"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
Oshi MAM, Alfaifi J, Alqahtani YAM, Aljabri MF, Kamal NM, Althopaity J, Althobaiti KA, Almalki AM, Abosabie SAS, Abosabie SA, et al. Mol Genet Genomic Med. 2024 Jan; 12(1):e2282. Epub 2023 Oct 6.