A new association between Kleefstra syndrome and Panayiotopoulos epilepsy

We highlight the association between Panayiotopoulos epilepsy and Kleefstra syndrome, which has not been previously reported in the literature. Although this kind of epilepsy is quite frequent in pediatric age and the possibility of a casual co-occurrence should be considered, however in Kleefstra syndrome patients carrying 9q34.3 microdeletion a potential additional role of genetic (besides EHMT1) and epigenetic factors in developing seizures cannot be excluded. The present data expand the genomic and phenotypical features of the syndrome, providing new insights about research, which are useful to achieve genotype/phenotype correlations and better management of affected subjects.