Research: Research Interests

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Schizencephaly

Schizencephaly refers to a particular abnormality in the way that the brain developed during pregnancy, resulting in a cleft or a slit in the brain. A cleft in schizencephaly extends from the surface of the brain all the way through to the ventricle, which is a normal fluid-filled space deep within the brain. The ventricle is directly connected to the surface of the brain in schizencephaly, which is not the case in the normal brain. The cleft can be bilateral or unilateral. The walls of the cleft can be touching each other or separated. Closed lip schizencephaly is the term used when the walls are touching each other, and open lip schizencephaly means that the walls are separated.

There may be many different causes of schizencephaly. Sometimes schizencephaly may result from problems during pregnancy, such as infection or exposure to certain drugs or toxins. In other cases, schizencephaly may be due to a mutation in a gene(s). Mutations in the EMX2 gene have been reported in a small number of patients, but this is not likely to be the case for most individuals with schizencephaly.

We are examining both the genetic and non-genetic causes of schizencephaly. Because many individuals with schizencephaly have not been found to have mutations within the EMX2 gene, our laboratory is searching for additional genes that may cause schizencephaly. Identification of the gene(s) will inform researchers of proteins that are important in brain development. Researchers can then study these proteins to learn how they function and this may lead to better treatment for individuals with schizencephaly in the future.

We are also studying non-genetic factors that may cause schizencephaly, such as problems during pregnancy. This part of our study involves a telephone interview of biological or adoptive parents of children with schizencephaly. Learning about some of these non-genetic causes may help us counsel patients in the future about what factors lead to an increased risk for schizencephaly.


MRIs: Flair Axial | T1 Sagittal | T1 Sagittal | T2 Axial | T2 Coronal | T2 Coronal


If you are interested in learning more about either of these studies or you would like us to review a diagnosis of schizencephaly, please contact our research coordinator by e-mail at walshlab@bidmc.harvard.edu or by phone at (617) 919-4371.