Targeted gene under study:

PIGU (OMIM: 608528)


We have collected 13 not previously reported affected individuals with pathogenic variants in PIGU gene. We are describing the genetic and electro-clinical features of PIGU-related disorders. 
We would like to collect more patients to further delineate the phenotypic spectrum and we would like to receive detailed clinical and EEG data. So please let us know if you have any patients with PIGU pathogenic variants presenting with epilepsy and neurodevelopmental disorders. 

Coordinating clinicians

Dr Valentina Di Micco –
Dr Reza Maroofian –


Danish Epilepsy Center – Filadelfia – Dianalund – Denmark
Institute of Neurology, University College London – London – United Kingdom

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No 

3- Linked to a translational/basic research project: No