Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication

Duplication of chromosome region 8q21.13-q22.2 is a rare abnormal copy number variant (CNV) previously reported in a few patients. Although these reports have mentioned the presence of seizures, the description was vague and an electroclinical syndrome has not been delineated [1–3]. Herein, we aimed to outline the epilepsy phenotype associated with 8q21.13-q22.2 duplication adding a new genetic finding to the spectrum of genetic generalized epilepsies (GGEs). Ethics approval was granted by the University Health Network Research Ethics Board.

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