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 Angelman Syndrome (AS) Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000...

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