Overview
- Considered an 'epileptic encephalopathy
- Characterized by onset of refractory focal seizures in the first year of life.
- Associated with severe encephalopathy.
- Focal seizures arise independently in both hemispheres.
- Seizures can migrate from one cortical region to another randomly but consecutively in the same seizure.
- Seizures are often prolonged with episodes of status epilepticus.
- Cause:
- Unknown in most cases.
- Few genes recently linked with this syndrome.
- Epileptic activity might directly contribute additional cognitive and behavioral impairments.
- Suppression of epileptic activity might minimize these additional impairments.
Clinical Context
- Typical onset: first six months of life (mean 3 months).
- Prevalence: <1 / 1 000 000
- Later onset in the first year of life has been reported.
- Both sexes equally affected.
- Antecedent and birth history typically normal.
- Head size and neurological examination usually normal at onset.
- Later neurological findings consistent with severe neurological impairment.
- Most patients develop microcephaly by 1 year of age.
- Development:
- May be normal at onset.
- Regression and subsequent severe delay typical.