Epilepsy is defined as a disorder in which an individual has recurrent, unprovoked seizures. It has a prevalence of about 5-10 per 1000 people. While the causes of epilepsy are diverse, a significant proportion are considered to be genetic in origin. Epilepsy can occur as part of a clinical spectrum that is associated with a particular genetic syndrome, such as Mowat Wilson syndrome, Dravet syndrome, and “chromosomal” epilepsies. Common “chromosomal” epilepsies include 1p36 deletion syndrome, Wolf-Hirschhorn syndrome, Angelman syndrome, Miller-Dieker syndrome, 15q inversion-duplication, Down syndrome and ring chromosome 14 and 20. In addition, epilepsy can occur as an isolated finding, 40% of which are believed to be due to genetic causes. Approximately 2% of the genetic causes of isolated epilepsy are due to monogenetic causes while the rest are thought to be due to multifactorial genetic and environmental causes. Of the monogenetic genes identified, the majority code for ion channel subunits and neurotransmitter receptors.
The epilepsy and seizure disorders panel is comprised of a next generation sequencing (NGS) and deletion/duplication panel testing for syndromic and non-syndromic causes of seizures. We recommend that individuals with seizures have a chromosomal microarray as a first tier test. Please click here for information on our EmArray Cyto
and CytoScan SNP Array
Support for the development of this panel was provided, in part, by a grant from the Epilepsy Foundation to Dr. Andrew Escayg, Associate Professor, Department of Human Genetics.
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- Nicita et al., (2012), Seizure, 21:3-11.
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- Pandolfo, (2011), Semin Neurol, 31:506-518.
- Poduri and Lowenstein, (2011), Curr Opin Genet Dev, 21:325-332.