Ohtahara syndrome; early infantile epileptic encephalopathy

Etiology

idiopathic

Epidemiology

• newborns, generally within the first 3 months of life

Genetics

• chromosomal translocation t(1;9)(q32;q13) disrupting SRGAP2 found in a patient with early infantile epileptic encephalopathy

Clinical manifestations

• seizures
• mental retardation
• other developmental impairments

Management

• no cure
• treatment is symptomatic & supportive
• prognosis
  • often is fatal
  • survivors suffer from severe mental & physical disability

More general terms

• syndrome
• infantile epileptic encephalopathy