Disorders of Cerebral Development

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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 (PMG) and cerebellar hypoplasia (CBLH). The ultimate goal of the investigators' research is to use a better understanding of the underlying genetic causes as a foundation to develop better treatments for these groups of patients.

We are seeking individuals with ACC (complete or partial), PMG, or CBLH that has been documented by MRI. We are particularly interested in identifying multiplex and/or consanguineous families. Families can enroll in the study without visiting UCSF. Blood samples will be requested from the individual, both parents and any siblings. Individuals who visit UCSF will undergo an interview, psychometric testing, and a physical examination. Adult participants who visit UCSF may also undergo more extensive testing, including diffusion tensor imaging (DTI) and magnetoencephalography (MEG).  Our website provides a basic explanation for patients and also lists contact information: http://neurology.ucsf.edu/brain/callosum/

If you have questions, would like to refer a patient or are interested in collaborating, please contact Elliott Sherr at (415) 514-9306 or at sherre@neuropeds.ucsf.edu. Families who are interested in participating can contact: Zoe Strominger, study coordinator, at 415-502-8039 or stromingerz@neuropeds.ucsf.edu.

This study is approved by the UCSF IRB and sponsored by the NIH and the March of Dimes. 

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Last revised 08-Feb-2011 by Steven Leber