“Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene”

ConclusionsIn infants presenting with unexplained non-specific neurological symptoms, irrespective of classical signs of vitamin B12 deficiency, evaluation forTCN2 defect should be considered. Early diagnosis and appropriate management can lead to favorable outcomes.

Source: Molecular Genetics & Genomic Medicine - October 6, 2023 Category: Genetics & Stem Cells Authors: Mohammed Ahmed Mohammed Oshi, Jaber Alfaifi, Youssef Ali M. Alqahtani, Mohammed Fahad Aljabri, Naglaa M. Kamal, Jwaher Althopaity, Khalid A. Althobaiti, Abdullah M. Almalki, Salma A. S. Abosabie, Sara A. Abosabie, Hanan Sakr Sherbiny, Saif K. A Tags: ORIGINAL ARTICLE Source Type: research