Phenotypic spectrum and long‐term outcome of children with genetic early‐infantile‐onset developmental and epileptic encephalopathy

Abstract

We detected four possible rare pathogenic gene variants as non-syndromic genetic causes of early-infantile-onset DEEs. Although early-infantile-onset DEEs responded poorly to antiseizure medication treatment, we found that specific antiseizure medications showed good therapeutic effects in some patients with early-infantile-onset DEEs harbouring gene variants.