"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
Mohammed Ahmed Mohammed OshiJaber AlfaifiYoussef Ali M AlqahtaniMohammed Fahad AljabriNaglaa M KamalJwaher AlthopaityKhalid A AlthobaitiAbdullah M AlmalkiSalma A S AbosabieSara A AbosabieHanan Sakr SherbinySaif K AlmanjoomiEnas A A AbdallahPublished in: Molecular genetics & genomic medicine (2023)
In infants presenting with unexplained non-specific neurological symptoms, irrespective of classical signs of vitamin B12 deficiency, evaluation for TCN2 defect should be considered. Early diagnosis and appropriate management can lead to favorable outcomes.