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Summary
EARLY-ONSET EPILEPTIC ENCEPHALOPATHIES DD
under construction
symptoms
encephalopathy
epilepsy
onset, infancy
seizures
laboratory finding
no specific laboratory findings (P, S, U ,CSF)
EEG abnormalities -
Literature
Jaeken J,Lefeber D, Matthijs GClinical utility gene card for: DPAGT1 defective congenital disorder of glycosylationEur J Hum Genet23122015