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PICO
Question: In patients with pyridoxine-dependent epilepsy, what are their clinical features and outcomes?
Question type: Descriptive
Study design: Case series
Researchers in Spain and India studied the clinical, biochemical, and genetic spectrum in children with pyridoxine-dependent epilepsy (PDE). The disease was confirmed based on the presence of α-aminoadipic semialdehyde (α-AASA) in urine and pipecolic acid (PA) in plasma and/or cerebrospinal fluid, and by DNA analysis.
A total of 12 children were included in the case series. Onset of seizures varied from the neonatal period to the first months of life. Seizures were focal or multifocal, clonic or myoclonic, and generalized tonic; 50% of study patients had status epilepticus. Seizures were controlled transiently with conventional antiepileptic drugs (AED) …
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