Genetic Determinants of Seizures and Epilepsy
Genetic Determinants of Seizures and Epilepsy
US Neurology, 2009;5(1):63-7
Abstract
Epilepsy is a group of common neurological disorders characterized by heterogeneous clinical presentation. The etiology of epilepsy is multifactorial, involving the influence of multiple gene variants interacting with factors in the environment. Certain rare forms of epilepsy have been attributed to mutations in a single gene, and although the list of such genes that are sufficient to produce epilepsy when mutated is growing steadily, they are directly relevant to only a very small fraction of all cases of epilepsy. Genetic influences in common forms of epilepsy have been more difficult to identify and future studies will focus on strategies to hasten the discovery process. The combination of translational research involving animal models and advances in genome technology will facilitate the identification of genetic variations that influence seizure susceptibility and contribute to the risk for developing common epilepsy. Application of genetic strategies to clinically well-characterized epilepsy patients will provide the added benefit of yielding data that are also relevant to the discovery of genes that influence responsiveness to the effects of antiepileptic drugs. Thus, future research on the genetic influences in epilepsy is anticipated to provide insight into both the underlying biological basis of seizures and potential targets that may be used to develop new treatments.
Keywords
Epilepsy, seizures, genetics, pharmacogenetics, genetic susceptibility, genetic association, animal models
Disclosure and Acknowledgements: The authors’ research is supported by National Institutes of Health (NIH) grant NS040554. They have no conflicts of interest to declare.
Received: November 17, 2008 Accepted: July 27, 2009
Correspondence: Thomas N Ferraro, PhD, Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, 125 S 31st Street, Philadelphia, PA 19104.E: Tnf@mail.med.upenn.edu
Epilepsy is a term used to describe over 40 different human seizure disorders that vary in clinical and electroencephalographic (EEG) characteristics. It is one of the most common neurological disorders and occurs in about 1% of the population, independent of geography, ethnicity, or gender.1 Seizures occur when the brain is disrupted by abnormal neuronal activity. Having two or more unprovoked seizures is a working definition of epilepsy that is used commonly by physicians. The focus of ‘epileptic activity’ can be centered in any region of the brain, although cerebral cortex, thalamus, and limbic structures are most often involved. In some types of epilepsy, the abnormal activity is confined to a specific brain region, and these are classified as focal, partial, or localization-related epilepsy. In other epilepsy subtypes, the abnormal neuronal activity does not have a clear focus, or may be thalamic or subcortical in nature, and these are classified as generalized epilepsy. Clinical classification of epilepsy subtypes and syndromes is complex and somewhat controversial; however, all agree with a major division between focal and generalized epilepsy.
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Epilepsy, seizures, genetics, pharmacogenetics, genetic susceptibility, genetic association, animal models, antiepileptic drugs, refractory epilepsy, focal seizures, nocturnal seizures, non epileptic seizures, causes of seizures, febrile seizures,
Specialities:
- Neurology
- ADHD
- Advanced Parkinson's Disease
- Anxiety Disorder
- Brain Cancer
- Cerebrovascular Disease
- Dementia
- Epilepsy
- Mood Disorders
- Motor/Movement Disorder
- Multiple Sclerosis
- Neuroimaging
- Neurosurgery
- Obsessive-Compulsive Disorder
- Pain/Headache
- Parkinson's Disease
- Psychiatry
- Schizophrenia
- Sleep Disorder
- Stroke
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