I will never forget what it felt like to hear the words "there are no approved treatments." That moment changed my life. The CYFIP2 Network was born from that urgency. About CYFIP2-DEE disorders: CYFIP2 Developmental and Epileptic Encephalopathy (CYFIP2-DEE) is a severe, ultra-rare genetic epilepsy caused by pathogenic variants in the CYFIP2 gene (Cytoplasmic FMR1-Interacting Protein 2). The condition was first described in 2018, when de novo variants, particularly at the Arg

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...