Endophenotypification of patients with genetic generalized epilepsy (GGE) A population based study
The aim of this study is to define new endophenotypes connected to epilepsy which is difficult to treat, within the cohort of all adult patients from Funen with GGE.
The group of patients with GGE is heterogeneous. Approximately 30 % of all GGE patients suffer from repeated relapse despite anti-epileptic treatment. Knowledge on the cause of the resistance to treatment is very limited. On a genetic level the research of genes causing GGE remains difficult, probably because of the heterogeneity of the disease. This heterogeneity is further complicated because the seizures are only symptoms of a roughly characterized underlying network of diseases connected to dysfunction of the motor cortex. Treatment of patients is mostly based on the principle of "trial and error". Markers, which help predict a fast response to one of the available medicines, would be a significant improvement of the treatment.
Description of the cohort
Adult patients with GGE from Funen.
Data and biological material
Biologic material (blood)
Results of neurophysiological examinations
Results of neuropsychological examinations
Collaborating researchers and departments
The Epilepsy Hospital Filadelfia.
Publications associated with the project
Gesche J, Wüstenhagen S, Krøigård T, Rubboli G, Beier CP. Magnetic evoked potential polyphasia in idiopathic/genetic generalized epilepsy: An endophenotype not associated with treatment response. Clin Neurophysiol. 2021 Jul;132(7):1499-1504. doi: 10.1016/j.clinph.2021.02.405. Epub 2021 Apr 21. PMID: 34023629.
Gesche J, Antonson S, Dreier JW, Christensen J, Beier CP. Social outcome and psychiatric comorbidity of generalized epilepsies - A case-control study. Epilepsia. 2021 May;62(5):1158-1169. doi: 10.1111/epi.16870. Epub 2021 Mar 18. PMID: 33734434.
Gesche J, Hjalgrim H, Rubboli G, Beier CP. Risk factors of paradoxical reactions to anti-seizure medication in genetic generalized epilepsy. Epilepsy Res. 2021 Feb;170:106547. doi: 10.1016/j.eplepsyres.2020.106547. Epub 2021 Jan 4. PMID: 33421702.
Gesche J, Hjalgrim H, Rubboli G, Beier CP. Patterns and prognostic markers for treatment response in generalized epilepsies. Neurology. 2020 Nov 3;95(18):e2519-e2528. doi: 10.1212/WNL.0000000000010644. Epub 2020 Aug 14. PMID: 32817177.
Gesche J, Hjalgrim H, Rubboli G, Beier CP. The clinical spectrum of familial and sporadic idiopathic generalized epilepsy. Epilepsy Res. 2020 Sep;165:106374. doi: 10.1016/j.eplepsyres.2020.106374. Epub 2020 Jun 1. PMID: 32554302.
Jensen CD, Gesche J, Krøigård T, Beier CP. Prognostic Value of Generalized Polyspike Trains and Prolonged Epileptiform EEG Runs. J Clin Neurophysiol. 2021 May 1;38(3):208-212. doi: 10.1097/WNP.0000000000000679. PMID: 31880591.
Gesche J, Christensen J, Hjalgrim H, Rubboli G, Beier CP. Epidemiology and outcome of idiopathic generalized epilepsy in adults. Eur J Neurol. 2020 Apr;27(4):676-684. doi: 10.1111/ene.14142. Epub 2020 Jan 3. PMID: 31838768.
Gesche J, Khanevski M, Solberg C, Beier CP. Resistance to valproic acid as predictor of treatment resistance in genetic generalized epilepsies. Epilepsia. 2017 Apr;58(4):e64-e69. doi: 10.1111/epi.13702. Epub 2017 Feb 23. PMID: 28230254.