Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.

Annalisa Vetro Tiziana PisanoSilvia ChiaroElena ProcopioAzzurra GuerraElena Parrini Davide MeiSimona VirdòGiusi MangoneChiara Azzari Renzo Guerrini

Published in: Neurology. Genetics (2020)

PIGP 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.

Keyphrases

cerebral palsy
early onset
intellectual disability
multiple sclerosis
copy number
autism spectrum disorder