Aicardi Syndrome was originally characterized by a triad of features, including agenesis of the corpus callosum (part of the brain is absent), chorioretinal lacunae (punched-out areas of the retina), ...

Adherence to the ketogenic diet improved seizure burden among pediatric patients with Aicardi syndrome and intractable epilepsy.

Specifically, we work on finding the cause of Aicardi syndrome, a severe neurodevelopmental disorder that affects girls. This lab studies in mice and embryonic stem cell models how maternal effect ...

This study describes a valuable new model for in vivo manipulation of microglia, exploring how mutations in the Adar1 gene within microglia contribute to Aicardi-Goutières Syndome. The methodology is ...