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
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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REN
Oct 13, 20204 min read
Get to Know Glut1 Deficiency Foundation
About Glut1 Deficiency Glut1 Deficiency is a rare, genetic disorder that impairs brain metabolism. Glucose isn’t properly transported...
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REN
Oct 13, 20203 min read
Get to Know KIF1A.ORG
Learn about KIF1A.org and their advocacy.
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REN
Oct 4, 20205 min read
Get To Know The International Foundation for CDKL5 Research
About CDKL5 CDKL5 deficiency disorder (CDD) is a rare developmental epileptic encephalopathy (DEE) caused by mutations in the CDKL5 gene....
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REN
Oct 4, 20205 min read
Get To Know Ring14 USA
About Ring14 Ring14 USA supports all neurodevelopmental anomalies on the 14th chromosome, in particular, Ring Chromosome 14 Syndrome....
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