Molecular basis of neurogenetic diseases

Molecular background of neurogenetic disease is briefly reviewed. Importance and usefulness of genetic testing are emphasized. Molecular genetics is a powerful tool for investigation of epileptic syndromes. Diagnosis based on gene analysis will give a new insight for pathophysiology and clinical outcome of the patient, and there is a hope to develop a new therapeutic approach in the near future. Among them a new molecular therapeutic trial for lysosomal diseases is being developed: chemical chaperone therapy. It will become a new approach to brain damage causing epilepsy and other phenotypic expressions of a large number of genetic diseases in the near future.