Early infantile epileptic-dyskinetic encephalopathy due to biallelic <i>PIGP</i> mutations

Abstract

<i>PIGP</i> mutations are consistently associated with an epileptic-dyskinetic encephalopathy with the features of early infantile epileptic encephalopathy with profound disability and premature death. CD16 is a valuable marker to support a genetic diagnosis of inherited GPI deficiencies.