Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients

Objectives and Background: This study aims to review and contribute to electroclinical features of inverted duplication of proximal chromosome 15 (inv dup [15]) syndrome. Inv dup (15) syndrome results from the instability of chromosome region 15q11-q13 and is most frequently associated with autism spectrum disorders. Affected patients also typically present with developmental delay and intellectual disability, hypotonia, expressive, and comprehensive language disorders, movement disorders and epilepsy. All of these patients carry a supernumerary chromosome 15 marker resulting in tetrasomy 15q, a region that involves the critical for neurodevelopment genes: UBE3A and SNRPN. Although epilepsy is recognized as a major challenge in the management of inv dup (15) syndrome, electroclinical data are limited and heterogenic.