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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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