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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...

About Unverricht-Lundborg Disease (ULD) Unverricht-Lundborg Disease (ULD) is a rare genetic Progressive Myoclonic Epilepsy, also known as...

About FOXG1 Syndrome FOXG1 syndrome is a haploinsufficient condition caused by variants in the FOXG1 gene, located on 14q12. As of March...

Get to Know Coalition to Cure CHD2 Updated: Feb 11 About CHD2-related neurodevelopmental disorders We currently have about 205 diagnosed...

About SLC6A1-Related Disorders SLC6A1-related disorders are emerging as a common cause of developmental and epileptic encephalopathies,...

About Cardio-Facio-Cutaneous (CFC) Syndrome CFC Syndrome is a rare genetic disorder that affects about 800 individuals worldwide. While...

About Tbc1d24 Mutation Our rare epilepsy is caused by a mutation in the Tbc1d24 gene. For a person to be affected with this disorder, two...

About NALCN NALCN is involved in ultra-rare and severe genetic diseases that begins in infancy. The sodium leak channel NALCN is a highly...

About STXBP1 Disorder STXBP1 Disorder is a rare developmental epileptic encephalopathy caused by mutations in the STXBP1 gene. The STXBP1...

About Dravet Syndrome Dravet Syndrome (DS) is a rare, severe and disabling developmental and epileptic encephalopathy of genetic origin,...

About SYNGAP1 - Non-Syndromic Intellectual Disability (NSID) SYNGAP1 was initially discovered in 2009 and has become a prominent gene...

About CACNA1A Mutations in the CACNA1A gene are associated with early-onset epileptic encephalopathy. The presentation is diverse and...

About KCNA2 The identification of KCNA2 began with research of voltage-gated potassium channels (VGKCs). These channels are specific...

About Dup15q Syndrome Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results...