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Millions of people in the US suffer from epilepsy, a heterogeneous collection of disorders that all involve spontaneous recurrent seizures that have no known trigger. Unfortunately, the etiology of epilepsy is poorly understood particularly given the diverse categories of genes that have been implicated in this disease. In order to understand the underlying cause of seizure disorders such as epilepsy, we study a family of Drosophila mutants that are known as the Bang-sensitive (BS) paralytic mutants. These mutants are susceptible to seizures following exposure to electrical shock, physical trauma, cold temperature, anesthetic gases, and high frequency light. Following any one of these insults, seizure activity, which is characterized by violent uncoordinated contractions of the legs, wings and abdomen, is observed. This is followed by a period of paralysis that is interspersed with bouts of subsequent seizure activity. (click here to view the video) Currently we are examining exactly what type of insults trigger seizures in the different BS mutants in order to better understand the nature of the defect. In particular, we are interested in 1) characterizing the types of high frequency light stimuli that can trigger seizures and 2) examining the ability of hypoxia to trigger seizures in Drosophila as hypoxia is known to be a potent trigger in mammals.
While it is clear that a diverse range of insults can trigger seizures in the BS mutants, no common physiological defect has been found in the BS mutants. This represents another major line of investigation in the lab. One possibility we are testing is whether metabolic defects may be common to the BS mutants. It is known that mitochondria from one BS mutant (technical knockout) have a reduced ability to synthesize ATP and that epileptic foci in mammals often display low levels of metabolism between seizure events. Given this and other data, we believe that defects in metabolism may play a role in the seizure disorders seen in the BS mutants. We are currently testing this hypothesis in the lab with the hopes that it will shed light on the physiological defect(s) in seizure disorders in general.
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