early myoclonic encephalopathy; neonatal epilepsy with suppression-burst pattern

Genetics

• autosomal recessive
• associated with defects in SLC25A22 gene

Clinical manifestations

• very early onset
• erratic & fragmentary myoclonus, massive myoclonus
• partial motor seizures
• late tonic spasms

Diagnostic procedures

• 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

More general terms

• myoclonic encephalopathy