This observational study aims to understand the genetic causes of epilepsy, brain malformations, and thinking disorders (cognition disorders). Researchers at Boston Children's Hospital are looking for genes involved in how the brain develops. They are studying conditions like polymicrogyria, lissencephaly, and autism, which often involve brain malformations and can lead to epilepsy. You can participate if you have a brain malformation or a thinking disorder, such as familial intellectual disability or autism. The study will compare your DNA with others to identify genes that play a role in these conditions. The goal is to identify and understand the genes important for normal brain development and those linked to brain malformations. This study is ongoing and plans to enroll 3500 participants.

Study design

This is an observational study with a planned enrollment of 3500 participants. It is not specified if this is a randomized or single-arm study, or if it is open-label or blinded.

What's involved

Not specified in the trial record.

Compensation

Not stated in the trial record.

Follow-up

The primary endpoint, identification and characterization of genes, is measured at ongoing.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.