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early myoclonic encephalopathy; neonatal epilepsy with suppression-burst pattern
Genetics:
1) autosomal recessive
2) associated with defects in SLC25A22 gene
Clinical manifestations:
1) very early onset
2) erratic & fragmentary myoclonus, massive myoclonus
3) partial motor seizures
4) late tonic spasms
Special laboratory:
- EEG: suppression-burst pattern higher-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases
Management:
- prognosis is poor
- no effective treatment
- children with the condition either die within 1-2 years after birth or survive in a persistent vegetative state
General
myoclonic encephalopathy
References
UniProt :accession Q9H936