Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

Epilepsy with eyelid myoclonias, originally depicted by Jeavons in 1977, is a reflex epilepsy characterized by jerking of the eyelids with or without absences precipitated by eye closure or by light (eyelid myoclonia, EM), eye closure-induced EEG paroxysms and photosensitivity. Childhood-onset, female predominance and a normal development are typical features, though a mild intellectual disability has been reported. Sotos syndrome is a disorder characterized by a distinctive facial appearance, learning disability and overgrowth in childhood with macrocephaly, caused by heterozygous pathogenic variants or deletions in NSD1 gene. Generalized and focal seizures have been reported in up to 25 % of patients, though EM was never documented. Here we report the novel association of Epilepsy with EM and Sotos syndrome features in a patient with two likely pathogenic missense variants in APC2 gene.