- Main clinical, EEG, and MRI findings suggesting inherited metabolic epilepsies.
Features | |
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Onset | Early: neonatal, infancy or early childhood |
Seizure types | Myoclonic, tonic, infantile spasms Seizures worsening with fasting (GLUT1) or with high protein meals (urea cycle defects) Progressive myoclonic epilepsy phenotype Seizures refractory to anti-epileptic drugs Seizures worsening with anti-epileptic drugs |
Neurological features | Developmental delay /regression Movement disorders Fluctuating course of illness |
Systemic symptoms | Dysmorphic features Organomegaly Ophthalmological abnormalities (cataracts, retinitis pigmentosa,cherry red spot, optic nerve atrophy) |
Family history | Parental consanguinity Metabolic or unexplained neurological disorder Death of unknown etiology |
EEG | Burst-suppression, multifocal spike discharges, hypsarrhythmia Comb-like rhythm (maple syrup urine disease) |
MRI/MRS | Normal / non specific abnormalities Corpus callosum dysgenesis (pyruvate dehydrogenase deficiency) Abnormal MRS in cerebral creatine deficiency or GABA transaminase deficiency |