title: Molecular basis of neurogenetic diseases.
abstract: 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.
authors.affiliation: International University of Health and Welfare Graduate School, Otawara, Tochigi, Japan. suzukiy@iuhw.ac.jp
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D001928:Brain Diseases, Metabolic / Q000235:genetics* / Q000266:history*; D005823:Genetics / Q000266:history*; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans