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.

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    Information

    Published:01 June 2024 Last Updated:02 June 2024