Epilepsy is a complex and heterogeneous disease which makes it difficult to precisely diagnose and provide an effective treatment. A major cause of epilepsy could be mutations in gene regulatory elements that instruct genes when, where and at what levels to turn on or off. Disruption of these elements in human inhibitory interneurons could be a cause for infantile spasms, an early-onset epilepsy. Here, we will identify and characterize gene regulatory elements of human inhibitory interneurons that could be associated with infantile spasms. This study will pave the way for screening epilepsy patients for mutations not only in genes but also in these regulatory elements, thus improving our ability to genetically diagnose epilepsy and hence provide more effective treatments.
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