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.
Tanaka
T
T
Department of Neurosciences, University of California, San Diego, La Jolla 92093-0624, USA.
Gleeson
J G
JG
D001921:Brain / Q000002:abnormalities* / Q000196:embryology*; D002531:Cerebellum / Q000002:abnormalities / Q000196:embryology; D006801:Humans