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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:
1) seizures
2) mental retardation
3) other developmental impairments
Management:
1) no cure
2) treatment is symptomatic & supportive
3) prognosis
a) often is fatal
b) survivors suffer from severe mental & physical disability
General
syndrome
infantile epileptic encephalopathy
References
- NINDS Ohtahara Syndrome Information Page
https://www.ninds.nih.gov/disorders/all-disorders/ohtahara-syndrome-information-page