1. The role of genetic testing in epilepsy diagnosis and management
- Author
-
Yvonne G. Weber, Holger Lerche, Saskia Biskup, Sarah von Spiczak, and Katherine L. Helbig
- Subjects
0301 basic medicine ,Genetic counseling ,Neurological disorder ,Bioinformatics ,Pathology and Forensic Medicine ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Genetic variation ,Genetics ,medicine ,Humans ,Genetic Testing ,Molecular Biology ,Exome ,Genetic testing ,medicine.diagnostic_test ,business.industry ,medicine.disease ,Precision medicine ,030104 developmental biology ,Molecular Medicine ,Personalized medicine ,business ,030217 neurology & neurosurgery - Abstract
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing. Moreover, it discusses ethical and legal guidelines, costs and technical limitations which should be considered. Expert commentary: Genetic testing is an important component in the diagnosis and treatment of many forms of epilepsy.
- Published
- 2017