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 24, 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 24, 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 16, 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 16, 2020
- 3 min
Get to Know PMG Awareness Organization
Get to know Polymicrogyria (PMG) & The PMG Awareness Organization
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REN
- Oct 14, 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 14, 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 14, 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 4, 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
- Aug 26, 2020
- 2 min
Get To Know Kathleen Farrell, MB BCh, BAO
What is Your Role I am the Senior Director of the Epilepsy Learning Healthcare System (ELHS) as part of the National Office team of the...
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REN
- Aug 26, 2020
- 5 min
Get To Know The Cute Syndrome Foundation (SCN8A Epilepsy)
About SCN8A SCN8A Epilepsy is a rare developmental epileptic encephalopathy associated with mutations in the gene SCN8A. The first known...
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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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REN
- Jun 30, 2020
- 1 min
Looking for Data for Rare Epilepsies?
Attention Patients, Advocates & Researchers - Rare Epilepsy Data
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