Genetics of brain development and malformation syndromes

The identification of the specific genes responsible for several childhood neurologic disorders has provided a framework with which to understand key development stages in human brain development. Common genetic disorders of brain development include septo-optic dysplasia, schizencephaly, holoprosencephaly, periventricular heterotopia, lissencephaly, and Joubert syndrome. For each of these disorders, a critical step in brain development is interrupted. The identification of the responsible genes is providing scientists a window into the key modulators of brain development, and providing clinicians the opportunity to offer genetic testing to individual patients and their families.