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| Usual age of onset | Etiology | Biochemical abnormalities | Type of epilepsy | EEG findings | Treatment | Prognosis |
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Pyridoxine dependent epilepsy | 0–2 months | ALDH7A1 mutation | Elevated CSF/urine alpha aminoadipic semialdehyde; elevated CSF/plasma pipecolic acid | Focal or generalized, myoclonic, epileptic spasms | Normal; Mild background slowing; generalized and multifocal epileptiform activities; hypsarrythmia | Pyridoxine (IV followed by oral) | Variable, dependent on early treatment with pyridoxine |
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Pyridoxal 5-phosphate dependent epilepsy | Early neonatal | PNPO mutation | Hypoglycemia and lactic acidosis; elevated plasma glycine and threonine; elevated CSF L-Dopa and 3-methoxytyrosine; decreased CSF homovanillic acid and 5-hydroxyindoleacetic acid | Multifocal myoclonic-tonic | Multifocal sharp waves; Burst suppression | Pyridoxal 5′-phosphate (Oral) | High rate of mortality and poor neurocognitive outcome |
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Autoimmune folate antibody related epilepsy | ~4 months | Folate antibody mediated | Decreased CSF 5-methyltetrahydrofolate; serum folate antibodies | Epileptic spasms, myoclonic-astatic seizures, absence, generalized tonic clonic | Mild diffuse slowing; multifocal spikes, hypsarrythmia, electrical status epilepticus of sleep | Folinic acid (oral) | Favorable outcome if treated before 6 years of age; incomplete neurological recovery if treated later |
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FOLR1 mutation related epilepsy | 4–8 years | FOLR1 mutation | Decreased CSF 5-methyltetrahydrofolate | Myoclonic-astatic, myoclonic, generalized tonic clonic | Diffuse slowing with multifocal spikes | Folinic acid (oral) | Favorable outcome if treated before 6 years of age; incomplete neurological recovery if treated later |
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Biotinidase deficiency | 2–5 months (Late onset adolescence to adulthood) | Biotinidase gene mutation | Decreased serum biotinidase; lactic acidosis; hyperammonemia; elevated 3-hydroxyisovalerate, 3-methylcrotonylglycine and methyl citrate; elevated CSF lactate and pyruvate | Generalized tonic clonic, myoclonic, partial seizures, infantile spasms | Normal; mild slowing; asynchrony, attenuated background; multifocal spikes; burst suppression; hypsarrythmia | Biotin (oral) | Improved with treatment |
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B12 deficiency | Infantile | Dietary | Elevated urine methylmalonic acid | Focal or generalized, epileptic spasms | Generalized slowing; focal or generalized epileptic discharges; hypsarrythmia | Hydroxycobalamin or cyanocobalamin (IM) | Preventable long-term sequelae with treatment
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