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Collection of biomaterial for iPSCs to study the molecular mechanisms underlying monogenic epilepsies

We aim to collect blood cells from 40 patients with monogenic epilepsy, with a preference for patients with a pathogenic variant in SCN1A, reprogram these cells into iPSCs and use these iPSCs for differentiation into neurons and neuronal organoids…

The measurement of EEG in combination with auditive stimuli (ERP) and visual stimuli (eyetracking), and OCT to obtain reference values in healthy typically developing children (0-18 years).

Our primary objective is to collect normative reference values in typically healthy developing children, aged 0 - 18 years, for EEG in combination with ERP and eyetracking, and OCT measurements (For details see also paragraph 5.1).