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Identification and functional characterisation of variant in microRNA genes involved in epileptic encephalopathies.

During my PhD, I will investigate the role of microRNAs in epileptic encephalopathies. Epileptic encephalopathies are a subgroup of the epilepsies, where patients have an early age-of-onset and a poor outcome, meaning that they develop cognitive impairments and that they are refractory to anti-epileptic drugs. More and more evidence is emerging that microRNAs are involved in the pathomechanism of epilepsy. The hypothesis of my project is that variants in microRNAs can be causal for these severe epilepsies. To investigate this, I will perform a variant screening in a cohort of patients with epileptic encephalopathies, followed by extensive functional characterisation of the microRNA and the variant herein. This will lead to a better insight in the pathomechanism of epileptic encephalopathies and hopefully in the discovery of new ways to target these disorders.
Date:1 Jan 2014  →  31 Dec 2017
Disciplines:Genetics, Systems biology, Molecular and cell biology, Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing