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Last Updated: 11/29/2022

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Disorders of Cerebral Development: A Phenotypic and Genetic Analysis

Summary: Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. The goal of the investigators' research i...

Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome

Summary: Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome. The research team is investigating Aicardi syndrome to identify the specific gene location associated with the disorder. Th investigators are collecting blood and skin biopsy samples from patients and their parents. A permanent cell line is prepared and DNA fr...

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Last Updated: 11/29/2022