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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...

About Glut1 Deficiency Glut1 Deficiency is a rare, genetic disorder that impairs brain metabolism. Glucose isn’t properly transported...

Learn about KIF1A.org and their advocacy.

About CDKL5 CDKL5 deficiency disorder (CDD) is a rare developmental epileptic encephalopathy (DEE) caused by mutations in the CDKL5 gene....

About Ring14 Ring14 USA supports all neurodevelopmental anomalies on the 14th chromosome, in particular, Ring Chromosome 14 Syndrome....

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...

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...

About SCN8A SCN8A Epilepsy is a rare developmental epileptic encephalopathy associated with mutations in the gene SCN8A. The first known...

About SCN2A SCN2A-related disorders are caused by pathogenic variants in the SCN2A gene on chromosome 2. The SCN2A gene encodes the...

Attention Patients, Advocates & Researchers - Rare Epilepsy Data