Epilepsy Research Institute, University of Melbourne, Austin & Repatriation, Medical Centre, Banksia Street, Heidelberg West, Victoria 3081, Australia
Molecular genetic studies of the epilepsies began in the 1980s. In 1995, the first gene for an idiopathic epilepsy was identified , and since then progress has accelerated. As has been the case for many neurological diseases, molecular discoveries in the epilepsies depend on synergy between clinical researchers and molecular geneticists. Initial careful identification of clinically homogeneous phenotypes greatly facilitates successful linkage analysis and subsequent gene identification. The molecular discoveries can then be applied to a wider range of patients, which may result in refinement of the phenotypic spectrum, and lead to a deeper understanding of the disorder. For example, molecular discoveries have re-shaped the classification of muscular dystrophies, spino-cerebellar ataxias, hereditary neuropathies, etc. .