IDENTIFICATION OF GENES AND CHARACTERIZATIONS OF PROTEINS INVOLVED IN AUTOSOMAL DOMINANT LATERAL TEMPORAL EPILEPSY (ADLTE)

Autosomal dominant lateral temporal epilepsy (ADLTE) is one of the inherited epileptic syndromes recently identified. It is caused by mutations in a gene mapped to chromosome 10q24. Recently, as part of an international collaboration, we identified this gene, termed epitempin (EPT), which carries mutations in two families, whereas in other families analized do not. We plan to analyze families with ADLTE or other temporal epilepsies to identify those that carry mutations in the EPT gene, thus defining the importance of the gene as a cause for ADLTE. Moreover, the families displaying no mutations in our gene will be studied to map other ADLTE-related loci and identify the corresponding genes. Finally, we will study the epitempin protein both in cell lines and in cerebral tissue to try to understand its function at the cellular level and how mutations affect the molecular mechanisms leading to the disease.