Get to Know Lennox-Gastaut Syndrome Foundation
Introducing Lennox-Gastaut Syndrome (LGS) Foundation
REN
- Apr 22
- 2 min
Get to Know Cure GABRB2
About GABRB2 GABRB2 epilepsy has a range of phenotypes from febrile seizures to severe developmental disabilities, epileptic...
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REN
- Mar 22
- 5 min
Get to Know Jordan's Guardian Angels
About Jordan's Syndrome (JS) or PPP2R5D-Related Neurodevelopmental Disorder Jordan’s Syndrome is a neurodevelopmental disorder caused by...
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REN
- Sep 16, 2021
- 2 min
Get to Know NR2F1 Foundation
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) was discovered in late 2013.
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REN
- Apr 23, 2021
- 3 min
Get to Know Lightning and Love Foundation
About Recessive THAP12 Genetic Epilepsy Lightning and Love Foundation was created specifically to support Recessive THAP12 genetic...
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REN
- Mar 26, 2021
- 6 min
Get to Know Project 8p Foundation
About Project 8p Foundation Chromosome 8p is a rare genetic condition with approximately 350 patients around the world and counting....
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REN
- Mar 26, 2021
- 2 min
Get to Know Foundation for Hao-Fountain Syndrome USP7 Gene
About Hao-Fountain Syndrome Hao-Fountain Syndrome is a haploinsufficient condition caused by variants in the USP7 gene, located on...
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REN
- Mar 18, 2021
- 3 min
Get 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...
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REN
- Mar 14, 2021
- 5 min
Get to Know Hope for ULD
About Unverricht-Lundborg Disease (ULD) Unverricht-Lundborg Disease (ULD) is a rare genetic Progressive Myoclonic Epilepsy, also known as...
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REN
- Mar 5, 2021
- 3 min
Get to Know FOXG1 Research Foundation
About FOXG1 Syndrome FOXG1 syndrome is a haploinsufficient condition caused by variants in the FOXG1 gene, located on 14q12. As of March...
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REN
- Feb 12, 2021
- 2 min
Get 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...
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REN
- Dec 18, 2020
- 2 min
Get to Know SLC6A1 Connect
About SLC6A1-Related Disorders SLC6A1-related disorders are emerging as a common cause of developmental and epileptic encephalopathies,...
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REN
- Dec 18, 2020
- 4 min
Get to Know CFC International
About Cardio-Facio-Cutaneous (CFC) Syndrome CFC Syndrome is a rare genetic disorder that affects about 800 individuals worldwide. While...
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REN
- Nov 25, 2020
- 3 min
Get to Know Tbc1d24 Mutation Foundation
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...
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REN
- Nov 25, 2020
- 4 min
Get to Know Fundación Libellas
About NALCN NALCN is involved in ultra-rare and severe genetic diseases that begins in infancy. The sodium leak channel NALCN is a highly...
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REN
- Nov 20, 2020
- 3 min
Get to Know STXBP1 Foundation
About STXBP1 Disorder STXBP1 Disorder is a rare developmental epileptic encephalopathy caused by mutations in the STXBP1 gene. The STXBP1...
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REN
- Nov 17, 2020
- 4 min
Get 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,...
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REN
- Nov 9, 2020
- 4 min
Get to Know Bridge the Gap - SYNGAP Education and Research Foundation
About SYNGAP1 - Non-Syndromic Intellectual Disability (NSID) SYNGAP1 was initially discovered in 2009 and has become a prominent gene...
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REN
- Oct 31, 2020
- 4 min
Get to Know CACNA1A Foundation
About CACNA1A Mutations in the CACNA1A gene are associated with early-onset epileptic encephalopathy. The presentation is diverse and...
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REN
- Oct 31, 2020
- 5 min
Get to Know KCNA2
About KCNA2 The identification of KCNA2 began with research of voltage-gated potassium channels (VGKCs). These channels are specific...
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