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.

1 Molecular Medicine Unit, University of Leeds, St James’s University Hospital, Leeds, UK 2 Department of Clinical Genetics, St James’s University Hospital, Leeds, UK Aicardi-Goutiéres syndrome (AGS) ...

Aicardi syndrome is a rare disorder mainly characterised trough agenesis or dysgenesis of the corpus callosum, seizures and chorioretinal lacunae, affecting about 1 in 1 05 000 to 1 67 000 newborns.

4-year-old "Bobbi" Dougharty was born with a rare genetic disorder called Aicardi Syndrome, because of this she goes through life in a wheelchair facing daily obstacles. "She's missing her corpus ...

Poland Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by excessive interferon-alpha production, leading to central nervous system damage, manifesting as subacute ...

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 ...

Work at IFM Due Inc. has led to the identification of stimulator of interferon genes protein receptor (STING; TMEM173) antagonists reported to be useful for the treatment of cancer, systemic lupus ...

The ketogenic diet is a safe and effective intervention in pediatric patients with Aicardi syndrome. A ketogenic diet improved seizure burden among patients with Aicardi syndrome and intractable ...