P 22q DELETION X EPILEPSY

• To document the prevalence of seizures and epilepsy in patients with 22q11.2 deletion, which is thought to be the most common recurrent microdeletion syndrome in humans and is associated with many syndromes, the authors conducted a validated epilepsy questionnaire of 108 deletion carriers and compared the results with those of 60 of unaffected siblings. Almost half the patients then underwent a second assessment with an interview, prolonged EEG, and an epileptologist review. The results showed that almost half of the patients without an epilepsy diagnosis reported a seizure at some point, and febrile seizures were more common in this population.

• This is a valuable observation of a cohort of patients with 22q11.2 deletion; seizures are not uncommon in this population, and epilepsy may be under-recognized.