Meet the KARES Foundation: Supporting Families Affected by KDM5C KDM5C-related disorder, also known as Claes-Jensen syndrome, is a rare...

About Angelman syndrome (AS) Angelman syndrome (AS) is a rare neurogenetic disorder that affects about one in 15,000 people, or...

Learn about About LCC/Labrune syndrome

An international movement to care for children with CRELD1.

Get to Know CYFIP2 Network and their community.

About "Life" Association for Rare Diseases in Children Our association is an umbrella association of patients suffering from various rare...

About DYNC1H1 Associated Neurological Disorders DYNC1H1 Associated Neurological Disorder (DAND) encompasses a recently identified group...

About NARS1 Disorder The first pathogenic variants for NARS1(asparaginyl-tRNA synthetase 1) disorder were reported in 2020. The NARS1...

About Pediatric Epilepsy Surgery: Surgery is the least utilized treatment in all of epilepsy. Many different surgeries can stop or reduce...

About CTNNB1 syndrome CTNNB1 syndrome is a rare neurodevelopmental disorder caused by variants in the CTNNB1 gene, located at 3p21. As of...

About ASXL-related disorders ASXL-related disorders are ultra-rare neurodevelopmental disorders typically caused by a de novo change to...

About PERC The Pediatric Epilepsy Research Consortium (PERC) began forming in 2010 when two groups each began an effort to mobilize and...

Introducing Lennox-Gastaut Syndrome (LGS) Foundation

About GABRB2 GABRB2 epilepsy has a range of phenotypes from febrile seizures to severe developmental disabilities, epileptic...

About Jordan's Syndrome (JS) or PPP2R5D-Related Neurodevelopmental Disorder Jordan’s Syndrome is a neurodevelopmental disorder caused by...

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) was discovered in late 2013.

About Recessive THAP12 Genetic Epilepsy Lightning and Love Foundation was created specifically to support Recessive THAP12 genetic...

About Project 8p Foundation Chromosome 8p is a rare genetic condition with approximately 350 patients around the world and counting....

About Hao-Fountain Syndrome Hao-Fountain Syndrome is a haploinsufficient condition caused by variants in the USP7 gene, located on...

About CURE Epilepsy CURE Epilepsy’s purpose is to promote and fund research to find a cure for epilepsy - all epilepsies, whether they...