Epilepsy

Epilepsy constitutes a group of disorders that cause seizures. These seizures reflect abnormally high levels of electrical activity in the brain. Known causes of epilepsy include genetic mutations, head trauma, brain tumor, encephalitis, infectious disease, stroke, and abnormal neural development. There are different types of epilepsy that can affect either specific or more generalized regions of the brain. Depending on the type, seizures can vary in severity, frequency, and prognosis. In rare instances a single mutant gene has been linked to a specific cases of epilepsy. However, most inheritable epilepsy is thought to be genetically complex. The NINDS Cell and DNA repository banks subjects with epilepsy. Also included in the collection are unaffected ("At Risk") and affected blood relatives of subjects, spouses (spousal controls), and normal healthy individuals (including population and convenience controls).

Disease Sub-Collection at a Glance

Search the Collection

• Samples by diagnosis  
• Samples by family
• Samples in DNA Panels
• Epilepsy subjects in the EPGP Collection
• Unaffected primary blood relatives of individuals with Epilepsy

Ordering

Acknowledgement Guidelines 

Submission Information

• Required Clinical Data Elements for subjects with Epilepsy (CDEs)

Links

• American Epilepsy Society  From the AES web-site: The American Epilepsy Society promotes research and education for professionals dedicated to the prevention, treatment and cure of epilepsy.
• Epilepsy Foundation  From the EF web-site: The Epilepsy Foundation will ensure that people with seizures are able to participate in all life experiences; and will prevent, control and cure epilepsy through research, education,advocacy and services.
• Citizens United for Research in Epilepsy (CURE)  From the CURE web-site: Citizens United for Research in Epilepsy is a non-profit organization dedicated to finding a cure for epilepsy by raising funds for research and by increasing awareness of the prevalence and devastation of this disease.
• Federal Policy for the Protection of Human Subjects

References and Selected Reading

1. Ferraro TN, Dlugos DJ, Buono RJ. Role of genetics in the diagnosis and treatment of epilepsy. Expert Rev Neurother. 2006 Dec;6(12):1789-800. PMID: 17181426
2. Kohrman MH. What is epilepsy? Clinical perspectives in the diagnosis and treatment. J Clin Neurophysiol. 2007 Apr;24 (2):87-95. PMID: 17414964
3. Noebels JL The biology of epilepsy genes. Annu Rev Neurosci. 2003;26:599-625. PMID: 14527270

For questions please contact the NINDS Repository team at NINDS@coriell.org