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).

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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