Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3037422 | Brain and Development | 2011 | 7 Pages |
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.
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Authors
Yoshiyuki Suzuki,