Human Epilepsy Genetics--Neuronal Migration Disorders Study

Pediatric epilepsy is responsible for tremendous long-term healthcare costs. Analysis of
inherited epilepsy conditions has allowed for identification of several key genes active in
the developing brain. Although many genetic abnormalities of the brain are rare and lethal,
rapidly advancing knowledge of the structure of the human genome makes it a realistic goal
to identify genes responsible for several other epileptic conditions.

The purpose of this study is to identify genes responsible for epilepsy and disorders of
human cognition (EDHC). The Walsh Laboratory at the Children's Hospital Boston and Beth
Israel Deaconess Medical Center is looking for genes involved in brain development.
Conditions that we study include brain malformations, such as polymicrogyria, lissencephaly,
Walker-Warburg syndrome, heterotopias, and cerebellar hypoplasia, and inherited disorders of
cognition, such as familial mental retardation and familial autism; people with these
conditions also often have epilepsy. The structural brain abnormalities are usually
diagnosed by brain MRI or sometimes CT scans. Adults and children with these conditions, and
their family members, are invited to participate in our study. By comparing the DNA of
individuals or families that carry EDHC to the DNA of people in the general population, it
may be possible to learn more about the genetic bases of certain forms of EDHC.

Study participants must have a brain malformation or disorder of cognition such as mental
retardation or autism in addition to epilepsy in order to take part in this research.

INCLUSION:

- Males and females of any age.

- Persons with a brain malformation or disorder of cognition (intellectual disability
[previously known as mental retardation] or autism).

EXCLUSION:

- Persons without a brain malformation or disorder of cognition (intellectual
disability (previously known as mental retardation] or autism).