- Epilepsy is a central nervous system disease characterized by recurrent unprovoked seizures, which are brief episodes of involuntary movement that may involve a part of the body (partial) or the entire body (generalized) and can be accompanied by loss of consciousness and loss of control of bowel or bladder function. Around 50 million people worldwide have epilepsy, making it one of the most common neurological diseases globally. Epilepsy entails an enduring predisposition to generate neurobiological, cognitive, psychological and social consequences. Multiple risk factors exist for epilepsy one of them being a strong genetic predisposition. The three major classes of epilepsy disorders are genetic generalized, focal and encephalopathic epilepsies, with several specific disorders within each class.Epilepsy genetics is shifting from an academic pursuit to a clinical discipline based on molecular diagnosis and stratified medicine. Mutations leading to epilepsy have been identified in genes encoding ion channels, neurotransmitter receptors, molecular cascade of cellular energy production and proteins involved in neuronal excitability. The mode of inheritance ranges from autosomal dominant, recessive all the way to mitochondrial.
- The IgenomixComprehensive EpilepsyPrecision Panel can serve as an accurate and directed diagnostic toolas well as for a differential diagnosis of recurrent seizures ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Comprehensive EpilepsyPrecision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with the following manifestations:
- Family history of epilepsy or treatment-resistant seizures
- Disturbances of movement
- Vision, hearing and taste disturbances
- Temporary confusion
- Uncontrollable jerking movements of the arms and legs
- Fear, anxiety or deja vu
- Loss of consciousness or awareness
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical with antiepileptic medication and monitoring of side effects, epilepsy surgery if indicated and dietary modifications.
- Establish recurrence risk depending on the type of epilepsy, genetic background and clinical presentation.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
Symonds, J. D., Zuberi, S. M., & Johnson, M. R. (2017). Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment. Currentopinion in neurology, 30(2), 193–199. https://doi.org/10.1097/WCO.0000000000000433
Thijs, R. D., Surges, R., O’Brien, T. J., & Sander, J. W. (2019). Epilepsy in adults. Lancet (London, England), 393(10172), 689–701. https://doi.org/10.1016/S0140-6736(18)32596-0
Hebbar, M., &Mefford, H. C. (2020). Recent advances in epilepsy genomics and genetic testing. F1000Research, 9, F1000 Faculty Rev-185. https://doi.org/10.12688/f1000research.21366.1
Myers, C. T., &Mefford, H. C. (2015). Advancing epilepsy genetics in the genomic era. Genome medicine, 7(1), 91. https://doi.org/10.1186/s13073-015-0214-7
Weber, Y. G., Biskup, S., Helbig, K. L., Von Spiczak, S., &Lerche, H. (2017). The role of genetic testing in epilepsy diagnosis and management. Expert review of molecular diagnostics, 17(8), 739–750. https://doi.org/10.1080/14737159.2017.1335598
Gurnett, C. A., & Hedera, P. (2007). New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation. Archives of neurology, 64(3), 324–328. https://doi.org/10.1001/archneur.64.3.324
Stafstrom, C. E., &Tempel, B. L. (2000). Epilepsy genes: the link between molecular dysfunction and pathophysiology. Mental retardation and developmental disabilities research reviews, 6(4), 281–292. https://doi.org/10.1002/1098-2779(2000)6:4<281::AID-MRDD7>3.0.CO;2-9
Goodkin, H. (2009). The founding of the American Epilepsy Society: 1936. Epilepsia, 50(3), 566-570. doi: 10.1111/j.1528-1167.2008.01910.x
Berg, A., Berkovic, S., Brodie, M., Buchhalter, J., Cross, J., & van Emde Boas, W. et al. (2010). Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia, 51(4), 676-685. doi: 10.1111/j.1528-1167.2010.02522.x