GENETICS OF HUMAN EPILEPSY AND COGNITIVE DISORDERS

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Epilepsy, especially pediatric epilepsy, is a chronic medical condition with tremendous long-term healthcare costs, with most of this cost coming from individuals with medically intractable seizures. Up to half of medically intractable pediatric epilepsy cases are associated with abnormalities of cerebral cortical development. Identification of genes involved in cortical development is a first step in understanding the process by which this development occurs. Our laboratory has previously identified genes responsible for three human disorders associated with intractable epilepsy: periventricular heterotopia (PH) (Fox et al., 1998), double cortex/X-linked lissencephaly (DC/KLIS) (Gleeson et al., 1998; Gleeson et al., 1999), and lissencephaly with cerebellar hypoplasia (Hong et al., 2000). The overall goal of this study is to continue to identify genes that are associated with human brain malformations in order to better understand their classification, pathogenesis and potential treatments.