About SYNGAP1 - Non-Syndromic Intellectual Disability (NSID) SYNGAP1 was initially discovered in 2009 and has become a prominent gene...

About CACNA1A Mutations in the CACNA1A gene are associated with early-onset epileptic encephalopathy. The presentation is diverse and...

About KCNA2 The identification of KCNA2 began with research of voltage-gated potassium channels (VGKCs). These channels are specific...

About Dup15q Syndrome Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results...

About WWOX WWOX is an abbreviation of the name of an enzyme and associated gene called “WW domain containing oxidoreductase” located on...

Get to know Hope for Hypoxic Ischemic Encephalopathy (HIE)

Get to know Polymicrogyria (PMG) & The PMG Awareness Organization

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...