University thesis:
Dissertation, Universitätsmedizin der Universität Greifswald, 2019
Footnote:
Literaturverzeichnis: Seite 60-64
Text deutsch, Anhang englisch
Description:
EFHC1, Epilepsy, JME
In the present study, the EFHC1 gene was sequenced in 41 patients with JME and the identified variants were correlated with predictors of clinical outcome described in several previous studies. In total, three variants - p.Phe229Leu, p.Arg182His and p.Arg294His - could be identified. The variant p.Phe229Leu, which occurred in two patients, could be associated with a milder JME subtype. Three patients had the variant p.Arg182His and showed an increased tendency to develop a photoparoxysmal response. An association with an early onset of epilepsy (≤10 years of age) and a subtype of JME resulting from childhood absence epilepsy could be demonstrated in the two patients with variant p.Arg294His, but without statistical relevance due to the small number of patients studied. In the future, it might be helpful to have one of these variants for clinical questions, in conjunction with clinical parameters, to be able to make a statement about the long-term development of the JME and related therapeutic decisions. According to current evaluations in the Human Gene Mutation Database, p.Arg182His and p.Arg294His are to be classified as benign variants / polymorphism and the variant p.Phe229Leu as a probable pathogenic variant. Thus, it has to be estimated that the variants are more likely to have a modifying influence on the course of the disease and are not the cause of the JME. In summary, the results suggest that JME is a heterogeneous disease. The primary goal of future studies should ...