Genetische Aufarbeitung des Marburger Video-EEG-Monitoring-Patientenkollektivs

Relatives of patients with epilepsy are at higher risk of developing epilepsy as well. The risk for relatives of patients with genetic (idiopathic) generalized epilepsy is higher than that for relatives of patients with focal epilepsy of a structural or un-known cause, as shown in the literature. In research into the genetics of epilepsy, family history is an important component. The main question raised in this study was the frequency of a positive family history in the population of this study and whether interviewing an elderly female family member could improve the family history. The included patients were examined at the video-EEG monitoring unit of the “Epi-lepsy Center Hessen, University Hospital Marburg” between 2014 and 2015. 73 patients met the inclusion criteria of this study. Patients with structural epilepsy other than dysplasia and hippocampal sclerosis were excluded. The age range of the patients was from 11-66 years. If these patients had agreed to participate in the “Bi-obank for paroxysmal neurological disorders”, an attempt was made to make a tele-phone conversation for the family history survey and also to take a family history with another family member, usually the mother. The results of this study show that patients undergoing video-EEG monitoring with a high proportion of drug-refractory patients often have a positive family history. In 37 % of the families, other affected family members with epilepsy, febrile seizures or single seizures were named. In 23 % of the families this was a confirmed epilepsy. However, the incidence of affected first-degree relatives (1.8 %) is lower than that in population-based studies. The values for generalized (2.6 %) and for focal epilepsy (0.8 %) were also lower than comparable values in the literature. It is therefore very likely that this is related to the high proportion of drug-refractory patients in the studied cohort. Although the values are comparatively low, it is essential to have a detailed family history in the medical history, even if performing video-EEG monitoring. The evaluations of relatives' interviews in this study showed that interviewing an elderly relative significantly increases the sensitivity for a positive family history, especially for patients between the ages of 10 and 40 years. Interviewing older family members regarding the family history is, therefore, recommended, in everyday clinical practice. The main information gain was found for relatives outside the nuclear family (first-degree relatives). Among other things, this may be evidence of a genetic component in the etiology of epilepsy or possible syndromes in the family. With regard to first-degree relatives, there was almost no added benefit by the additional interviews in this study, indicating sufficient communication between these family members.