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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REN
Oct 3, 20202 min read
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, 20202 min read
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, 20205 min read
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, 20203 min read
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, 20201 min read
Looking for Data for Rare Epilepsies?
Attention Patients, Advocates & Researchers - Rare Epilepsy Data
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