CONCLUSION

Genetics plays a role in virtually all epilepsy syndromes, through a diversity of mechanisms. The identification of specific mutations in ion channel subunits has contributed significantly to our knowledge of underlying pathogenic pathways leading to seizures and epilepsy, but clearly, non-ion channel genes are involved. Further work in the identification of gene defects and their functional characterization will continue to advance our understanding of basic mechanisms. Work toward improving phenotype–genotype correlations and delineating the functional significance of both common and rare polymorphisms in “epilepsy genes” will allow us to make better use of genetic testing in epilepsy.

The eventual hope is that understanding the genetics of human epilepsy will improve recognition, diagnosis, and treatment of individuals with epilepsy. In the search for new strategies to reduce the burden of disease, the discovery of epilepsy genetic risk factors offers a novel opportunity to identify individuals susceptible to epilepsy before it develops and to treat and prevent seizures and associated comorbidities in those individuals at risk.

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