Epilepsy – Molecular Genetic Studies on Developmental Disorders

What is the goal of this study?

The goal of this long-term study is to learn more about the nature of developmental disorders or brain malformations, epilepsy and seizures by finding their underlying genetic causes. We hope information from this study will help you and your child’s doctor better understand and care for your child and also help children in the future with similar disorders.

Who can join the study?

This study is a good fit for families with children who have:

• Brain growth disorders – microcephaly (small head size) and macrocephaly (large head size).
• Cortical malformations – such as lissencephaly (smooth brain), polymicrogyria, focal cortical dysplasia.
• Focal epilepsy syndromes.
• Body overgrowth syndromes.
• Other complex or unsolved brain abnormalities associated with epilepsy, autism, ID or hydrocephalus.

This is an international study. Families do not have to live in Seattle to join.

What will happen if my child takes part in this study?

If you and your child decide to take part in the study:

• We will review and collect information from your child’s medical records including medical history and exams, brain scans, photographs, and genetic and other test results. We will use the information collected to confirm or re-classify your child’s developmental disorder.
• We may ask for a DNA sample from your child for genetic testing. Samples may be obtained from saliva, blood, skin, or other tissues. If we find a significant genetic change, we will let your doctors know and recommend that the test results be confirmed in a clinical genetics laboratory.

Who can I contact for more information?

Please call 206-884-4102 or send us an email.