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Article

Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report.

BMC pediatrics - 30 Sept 2024

Bandara Pkbuc, Wijenayake Wasana, Fernando Sanjaya, Padeniya Padmapani, Mettananda Sachith

Abstract excerpt

BACKGROUND: Vitamin B12 deficiency is a recognised cause of neurological manifestations, including peripheral neuropathy, behavioural changes, and seizures. However, developmental and epileptic encephalopathy due to vitamin B12 deficiency is very rare. Here, we report an infant with vitamin B12-responsive developmental and epileptic encephalopathy due to a novel mutation in the fucosyltransferase 2 (FUT2) gene...

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Identifiers

PMID: 39350204
DOI: 10.1186/s12887-024-05106-1
PMCID: PMC11441083

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