RENApr 222 minGet to Know Cure GABRB2About GABRB2 GABRB2 epilepsy has a range of phenotypes from febrile seizures to severe developmental disabilities, epileptic...
RENMar 225 minGet to Know Jordan's Guardian AngelsAbout Jordan's Syndrome (JS) or PPP2R5D-Related Neurodevelopmental Disorder Jordan’s Syndrome is a neurodevelopmental disorder caused by...
RENSep 17, 20212 minGet to Know NR2F1 FoundationBosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) was discovered in late 2013.
RENApr 23, 20213 minGet to Know Lightning and Love FoundationAbout Recessive THAP12 Genetic Epilepsy Lightning and Love Foundation was created specifically to support Recessive THAP12 genetic...
RENMar 26, 20216 minGet to Know Project 8p FoundationAbout Project 8p Foundation Chromosome 8p is a rare genetic condition with approximately 350 patients around the world and counting....
RENMar 26, 20212 minGet to Know Foundation for Hao-Fountain Syndrome USP7 GeneAbout Hao-Fountain Syndrome Hao-Fountain Syndrome is a haploinsufficient condition caused by variants in the USP7 gene, located on...
RENMar 19, 20213 minGet to Know CURE Epilepsy About CURE Epilepsy CURE Epilepsy’s purpose is to promote and fund research to find a cure for epilepsy - all epilepsies, whether they...
RENMar 15, 20215 minGet to Know Hope for ULDAbout Unverricht-Lundborg Disease (ULD) Unverricht-Lundborg Disease (ULD) is a rare genetic Progressive Myoclonic Epilepsy, also known as...
RENMar 5, 20213 minGet to Know FOXG1 Research FoundationAbout FOXG1 Syndrome FOXG1 syndrome is a haploinsufficient condition caused by variants in the FOXG1 gene, located on 14q12. As of March...
RENFeb 12, 20212 minGet to Know Coalition to Cure CHD2 Get to Know Coalition to Cure CHD2 Updated: Feb 11 About CHD2-related neurodevelopmental disorders We currently have about 205 diagnosed...
RENDec 18, 20202 minGet to Know SLC6A1 ConnectAbout SLC6A1-Related Disorders SLC6A1-related disorders are emerging as a common cause of developmental and epileptic encephalopathies,...
RENDec 18, 20204 minGet to Know CFC InternationalAbout Cardio-Facio-Cutaneous (CFC) Syndrome CFC Syndrome is a rare genetic disorder that affects about 800 individuals worldwide. While...
RENNov 25, 20203 minGet to Know Tbc1d24 Mutation FoundationAbout Tbc1d24 Mutation Our rare epilepsy is caused by a mutation in the Tbc1d24 gene. For a person to be affected with this disorder, two...
RENNov 25, 20204 min Get to Know Fundación LibellasAbout NALCN NALCN is involved in ultra-rare and severe genetic diseases that begins in infancy. The sodium leak channel NALCN is a highly...
RENNov 20, 20203 minGet to Know STXBP1 FoundationAbout STXBP1 Disorder STXBP1 Disorder is a rare developmental epileptic encephalopathy caused by mutations in the STXBP1 gene. The STXBP1...
RENNov 17, 20204 minGet to Know Dravet Syndrome Foundation Spain (FSD)About Dravet Syndrome Dravet Syndrome (DS) is a rare, severe and disabling developmental and epileptic encephalopathy of genetic origin,...
RENNov 10, 20204 min Get to Know Bridge the Gap - SYNGAP Education and Research FoundationAbout SYNGAP1 - Non-Syndromic Intellectual Disability (NSID) SYNGAP1 was initially discovered in 2009 and has become a prominent gene...
RENNov 1, 20204 min Get to Know CACNA1A FoundationAbout CACNA1A Mutations in the CACNA1A gene are associated with early-onset epileptic encephalopathy. The presentation is diverse and...
RENNov 1, 20205 minGet to Know KCNA2About KCNA2 The identification of KCNA2 began with research of voltage-gated potassium channels (VGKCs). These channels are specific...
RENOct 24, 20204 minGet to Know Dup15q AllianceAbout Dup15q Syndrome Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results...
RENEpilepsy in Asian Americans and Pacific IslandersThis May celebrates Asian American and Pacific Islander Heritage Month. This month is dedicated to celebrating the contributions Asian...
RENGet to Know Cure GABRB2About GABRB2 GABRB2 epilepsy has a range of phenotypes from febrile seizures to severe developmental disabilities, epileptic...
RENSpotlighting Rare Epilepsies this Purple DayPurple Day takes place annually on March 26 as an international effort to spread awareness and resources about epilepsy. It’s a...