Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

The “popgen“-project as part of the national human genome project is designed to investigate the epidemiology of genetic predispositions for major illnesses like coronary artery disease, chronic inflammatory bowl disease and epilepsy in a defined northern German region.

All children and teenagers up to 18 years of age with epilepsy, febrile seizures and neonatal seizures are asked to give blood for genetic testing and to fill in a questionnaire. The clinical data are taken from the medical history files of one of the eight neuropediatricians working in that area. All patients taking part in the study are characterized by their seizures and, if possible, classified into the correspondent epilepsy syndrome. Additionally, a control group is established consisting of randomly chosen healthy individuals of the same geographic and ethnic origin.

One part of the study consists of the genetic investigation on the frequency of mutations of known epilepsy-associated genes. The other part consists of a questionnaire about epidemiologic data, family disposition, medical history and quality of live. Furthermore up to 50% of the patient are going to participate in a regular follow-up.

Main focus of the project is to identify the genetic epidemiology of epilepsy-associated genetic variants and to conduct phenotype-genotype correlation of epilepsy, febrile seizures and neonatal seizures. First epidemiologic data will be presented in the poster.