• Neurociències

[SCItalk] Neurodevelopmental Disorders with Epilepsy - Did We Learn any Lessons from Genetic Testing?

Johannes Lemke
University of Leipzig, Germany


Neurodevelopmental disorders with epilepsy display an extensive etiologic heterogeneity. Routine diagnostic testing strategies comprise various clinical investigations as well as different genetic testing approaches. Scrutinizing the diagnostic yield of these routine procedures not only reveals notable differences, but also the dissection and comparison of various genetic screening methods discloses striking and unexpected methodologic inconsistencies. Additional insights on time and labor of diagnostic tests as well as their costs and diagnostic yield may require a rethinking of current routine diagnostic strategies.



Dr. Johannes Lemke is Director of the Institute of Human Genetics and the Center for Rare Diseases as well as professor of Human Genetics at the University of Leipzig, Germany. His clinical and research focus is on the genetic background of epilepsy disorders, especially of epileptic encephalopathies. Dr. Lemke has published extensively on different aspects of genetic testing in epilepsies and has contributed to the identification of numerous disease genes. As a clinical geneticist, he aims for a better understanding of genotype-phenotype correlations as well as precision medicine approaches.


Host: Xavier Altafaj - Neuroscience Program