Early-Onset Epileptic Encephalopathy with Phospholipase C Beta 1 Deficiency

Abstract

The clinical presentation and evolution of epileptic encephalopathy associated with a loss-of-function mutation in the phospholipase C-b 1 gene are reported in a male infant with infantile spasms treated at the University of Birmingham School of Medicine, UK.

Keywords

• epileptic encephalopathy
• infantile spasms
• genetic heterogeneity