Article
"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
Molecular genetics & genomic medicine - 1 Jan 2024
Oshi Mohammed Ahmed Mohammed, Alfaifi Jaber, Alqahtani Youssef Ali M, Aljabri Mohammed Fahad, Kamal Naglaa M, Althopaity Jwaher, Althobaiti Khalid A, Almalki Abdullah M, Abosabie Salma A S, Abosabie Sara A, Sherbiny Hanan Sakr, Almanjoomi Saif K, Abdallah Enas A A
Abstract excerpt
BACKGROUND: Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures. Cobalamin, an essential nutrient, plays a crucial role in central nervous system myelination. CLINICAL PRESENTATION: We present a family with an index patient who exhibited...
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