Epilepsy & behavior : E&B
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Epilepsy & behavior : E&B · Mar 2013
ReviewUnraveling the genetics of common epilepsies: approaches, platforms, and caveats.
With no known intervention to prevent or cure epilepsy, treatment is primarily symptomatic and requires long-term administration of medications to suppress seizure occurrence. Current antiepileptic drugs (AEDs) are ineffective in one-third of patients (Kwan and Brodie, 2000). Such therapeutic inadequacy is largely due to our insufficient understanding of the basic molecular pathophysiological processes that underlie epileptogenesis. ⋯ We review the approaches that have been taken to identify genetic risk markers of the common epilepsy syndromes, the experimental platforms, and their caveats. We discuss current technologies and analytical frameworks that might expedite the discovery of these variants by leveraging advances in microarray-based, high-throughput, genotyping technology, and complementary interdisciplinary expertise of study teams including the need for meta-analyses under global collaborative frameworks. We briefly discuss the analytical options made available through rapid advances in sequencing and other genomic technologies.
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The relationship between headache and seizures is a complicated one, since these two conditions are related in numerous ways. Although the nature of this association is unclear, several plausible explanations exist: the two disorders coexist by chance; headache is part (or even the sole ictal phenomenon) of seizures or the post-ictal state; both disorders share a common underlying etiology; and epilepsy mimics the symptoms of migraine (as in benign childhood epilepsy). Seizures and headaches as well as their respective primary syndromes (epilepsy and headache/migraine) share several pathophysiological mechanisms. ⋯ Both experimental and clinical measures are required to better understand this relationship. The development of animal models, molecular studies defining more precise genotype/phenotype correlations, and multicenter clinical studies with revision of clinical criteria for headache/epilepsy-related disorders represent the start for planning future translational research. In this paper, we review the relationship between migraine and epilepsy in terms of epidemiology and pathophysiology with regard to translational research and clinical correlations and classification.