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Genetics and Genomics of Neuro-Psychiatric Diseases, I: Seizure Disorders 

Genetics and Genomics of Neuro-Psychiatric Diseases, I: Seizure Disorders
Chapter:
Genetics and Genomics of Neuro-Psychiatric Diseases, I: Seizure Disorders
Author(s):

William Owen Pickrell

DOI:
10.1093/med/9780199896028.003.0031
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date: 31 May 2020

Epilepsy, one of the most common neurological disorders, is estimated to affect around 1% of all populations, probably higher in resource poor areas, and at least 50 million people are affected worldwide. There is a clear link between genetics and epilepsy - 1st degree relatives of people with epilepsy are around two to four times more likely to develop epilepsy than the general population and monozygotic twins show a higher rate of concordance when compared to dizygotic twins. More than 100 years ago, the inherited influence was suggested in around 31%, remarkably similar to the estimate that is widely used today - genetic factors account for around 40% of all epilepsies. It is only during the last 15 years or so that real progress has been made into understanding some of the complicated genetics involved with epilepsy. The ability to use powerful new genomic technology marks an exciting time, promising to yield further significant advances in our understanding, with the ultimate aim to improve the treatment and quality of life of people with the disease. The classification of seizures and epilepsy includes a number of predominantly monogenic genetic and symptomatic complex epilepsies. In addition, some aspects of contemporary epilepsy treatment are influenced by genomics.

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