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, 20212 min read
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 14, 20215 min read
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, 20213 min read
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, 20212 min read
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, 20202 min read
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, 20204 min read
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
Dec 7, 20202 min read
Finding & Creating a Rare Epilepsy Community
Diagnosed with a new rare epilepsy and looking for community? Tips follow from the Rare Epilepsy Network (REN) leaders. Do a google and...
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REN
Nov 25, 20203 min read
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, 20204 min read
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, 20203 min read
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, 20204 min read
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, 20204 min read
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, 20204 min read
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, 20205 min read
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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REN
Oct 23, 20204 min read
Get to Know Dup15q Alliance
About Dup15q Syndrome Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results...
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REN
Oct 23, 20203 min read
Get to Know WWOX Foundation
About WWOX WWOX is an abbreviation of the name of an enzyme and associated gene called “WW domain containing oxidoreductase” located on...
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REN
Oct 15, 20202 min read
Get to Know Hope for Hypoxic Ischemic Encephalopathy (HIE)
Get to know Hope for Hypoxic Ischemic Encephalopathy (HIE)
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REN
Oct 15, 20203 min read
Get to Know PMG Awareness Organization
Get to know Polymicrogyria (PMG) & The PMG Awareness Organization
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REN
Oct 13, 20204 min read
Get to Know FamilieSCN2A Foundation
About SCN2a Located on the long (q) arm of chromosome 2 at position 24.3 the SCN2A is sodium channel, voltage gated, type II alpha...
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