Early-Onset Epileptic Encephalopathies with STXBPl Mutations

Abstract

Researchers at the Department of Molecular Genetics, University of Antwerp, and other centers in Belgium, The Netherlands, and Melbourne, Australia, analyzed the clinical phenotypes associated with STXBPl mutations in a cohort of 106 patients with unexplained early-onset epileptic encephalopathies.

Keywords

• early myoclonic encephalopathy
• early-onset epileptic encephalopathy
• ohtahara syndrome