Disease burden in genetic epilepsies – five things to know

Disease burden. One aspect of neurodevelopmental disorders that we cover insufficiently on our blog is how epilepsy affects families. Not just the symptoms of seizures and developmental delay, but how the overall burden of developmental and epileptic encephalopathies (DEEs) affects the quality of life of patients. In a recent study, we took a first step towards measuring quality of life and assessing to what degree seizure control and quality of life in DEEs are related. To our surprise, we found that objective seizure control and quality of life are unrelated. In contrast, quality of life is related to a more nuanced measure, the number of days that were minimally disrupted by seizures.

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Invitation for the EuroEPINOMICS General Assembly in Tübingen

We need to talk. Much has happened in EuroEPINOMICS land ever since the launch of this Eurocores activity in 2011. Back then, exomes were still a realistic, but somewhat remote possibility and the complexity and ambiguity of the human genome was only beginning to be revealed. Now, roughly two years later, we have witnessed major breakthroughs in understanding epilepsy through genetic findings and we have generated large datasets on common and rare epilepsy syndromes that require an unanticipated effort for data mining and sharing. The EuroEPINOMICS Consortium will hold its 2013 General Assembly in Tübingen, Germany, from 30.10-01.11.2013. This meeting will connect all four Collaborative Research Projects and will be the central meeting of this year to jointly discuss our current activities and plans for the future. Continue reading