"Metabolic and genetic research into early onset epileptic encephalopathies"
Early onset epileptic encephalopathies represent a heterogeneous group of rare disorders that constitute a major diagnostic and therapeutic challenge. The Division of Child Neurology at the Children’s Hospital Zurich will identify patients with early onset epileptic encephalopathy of still unclear aetiology and is collaborating with the Institute of Medical Genetics of the University of Zurich which has proven expertise in whole exome sequencing.
The aim of this interdisciplinary research project is to systematically investigate patients with early onset epileptic encephalopathies in a combined approach towards metabolic defects of vitamine metabolism and primarily genetic disorders. Phenotypes will be delineated by their natural course and the analysis of seizure semiologies by archived Video EEGs.
This research will provide further insights into the natural course and accompanying disturbances in vitamine metabolism disorders. The whole exome sequencing allows the identification of previously unknown disease-relevant genes in early onset epileptic encephalopathies. Electrophysiological studies allow conclusions about the underlying molecular mechanisms of the disease.