Chromosome 15q11.2-13.1 duplication syndrome (short: Dup15q) is a rare genetic disorder. Due to its low prevalence, the clinical features and the progression of the syndrome remain insufficiently characterized in the existing literature. In addition, the epilepsy phenotype of the patients and specific EEG features have so far only been described in small patient cohorts. Beta oscillations observed in EEG recordings are currently being discussed as a potential biomarker as they have been already examined in multiple publications.

This study aims to characterize the clinical manifestations, natural history and epilepsy phenotype of affected children. We will perform EEG power and beta peak frequency analyses to further investigate beta oscillations as a biomarker for Dup15q.

First, the previously described phenotype of Dup15q syndrome will be systematically reviewed based on the current scientific literature. A quantitative retrospective natural history modelling (QUARNAM) will be applied to examine hard clinical endpoints using biostatistical methods. In collaboration with “Dup15q e.V. “, the German family foundation, we try to gather as many EEG recordings of affected children and adults as possible. Raw EEG data will be analysed on the previously described biomarker of beta oscillations. In a final step, EEG and epilepsy characteristics of the patients included in the German registry will be correlated with the EEG biomarker.

We expect to confirm beta oscillations as a characteristic EEG feature of Dup15q syndrome on a lager patient cohort. Furthermore, we aim to expand and specify the currently described clinical phenotype of the syndrome in order to identify predictive markers of disease progression and therapeutic response.