DEE | REN 3/3

Oct 15, 20203 min read

Get to Know PMG Awareness Organization

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

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...

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...

Oct 13, 20203 min read

Get to Know KIF1A.ORG

Learn about KIF1A.org and their advocacy.

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....

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....

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...

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...