Targeted gene under study:

SETD5 (MIM : 615743)


Haploinsufficiency of the gene SETD5 (SET domain-containing 5), which encodes for an ubiquitously expressed protein modulating gene expression and neural cell proliferation (PMID 32299058), has been so far associated with intellectual disability and autism spectrum disorder (PMID: 27375234, 24680889, 25138099, 28881385, 29484850). Few reports in the literature (PMID: 26482601, 37797428) and our centre’s experience suggest SETD5-related phenotype might include epilepsy.   
Through this call we wish to gather a wide cohort of SETD5-related epilepsy patients, aiming at defining the clinical epilepsy and EEG phenotype and addressing possible genotype-phenotype correlations. 

Coordinating clinicians

Simona Balestrini –

Renzo Guerrini –


Neuroscience Department, Meyer Children’s Hospital IRCCS, Florence, Italy

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