Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.


PURPOSE To describe epilepsy and EEG findings in the early-onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine. METHODS Type and frequency of seizures were studied in 10 patients (six boys and four girls) who underwent waking and… (More)