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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REN
- Oct 23, 2020
- 4 min
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, 2020
- 3 min
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, 2020
- 2 min
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, 2020
- 3 min
Get to Know PMG Awareness Organization
Get to know Polymicrogyria (PMG) & The PMG Awareness Organization
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REN
- Oct 13, 2020
- 4 min
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, 2020
- 4 min
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, 2020
- 3 min
Get to Know KIF1A.ORG
Learn about KIF1A.org and their advocacy.
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REN
- Oct 4, 2020
- 5 min
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, 2020
- 5 min
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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REN
- Oct 3, 2020
- 2 min
Get To Know the Angelman Syndrome Foundation
About Angelman Syndrome (AS) Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000...
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REN
- Jul 31, 2020
- 3 min
Get To Know SCN2A AUSTRALIA
About SCN2A SCN2A-related disorders are caused by pathogenic variants in the SCN2A gene on chromosome 2. The SCN2A gene encodes the...
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