About SCN1A gain-of-function (GoF) disorders: SCN1A gain-of-function (GoF) developmental and epileptic encephalopathy (DEE) is a rare, severe neurological condition caused by mutations in the SCN1A gene that increase sodium channel activity in the brain. SCN1A gain-of-function (GoF) developmental and epileptic encephalopathy (DEE) is a rare, severe neurological condition caused by mutations in the SCN1A gene that increase sodium channel activity in the brain. Children with SC

A Mystery Begins On March 30, 2011, a little fuzzy boy named Thaddeus was born. Thad started out as most of them do, kicking and crying....

Meet the KARES Foundation: Supporting Families Affected by KDM5C KDM5C-related disorder, also known as Claes-Jensen syndrome, is a rare...

About Angelman syndrome (AS) Angelman syndrome (AS) is a rare neurogenetic disorder that affects about one in 15,000 people, or...