Study of Selected X-Linked Disorders: Aicardi Syndrome

This study is collecting information and biological samples from individuals who may have Aicardi Syndrome, a rare neurological condition that predominantly affects females. Aicardi Syndrome is characterized by absence of the corpus callosum (the structure connecting the two brain halves), distinctive eye abnormalities, and epileptic seizures. Because it is rare, little is known about its full spectrum and cause — this study aims to change that. You may be eligible if: - You have features that may be consistent with Aicardi Syndrome, including: - Absence of the corpus callosum (agenesis) - Distinctive abnormalities of the retina (chorioretinal lacunae) - A history of infantile seizures (infantile spasms) - (Not all features need to be present) - There is no age restriction You may NOT be eligible if: - There are no exclusion criteria for this study Talk to your doctor to see if this trial is right for you.