📢 Are you a rare epilepsy patient, caregiver, provider, or advocate? We want to hear from you! The Rare Epilepsy Network is recruiting participants for an online survey study exploring the challenges, needs, and priorities of the rare epilepsy community. ✅ Complete surveys on your own schedule ✅ Your responses are fully confidential All are welcome — patients (18+), caregivers, clinicians, researchers, and advocacy reps. 👉 Click here to participate Questions? Contact...

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...

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

REN would like to acknowledge and thank our 2024-2025 Interns working behind the scenes to develop content and new tools for REN and...

Learn about About LCC/Labrune syndrome

An international movement to care for children with CRELD1.

Get to Know CYFIP2 Network and their community.

About "Life" Association for Rare Diseases in Children Our association is an umbrella association of patients suffering from various rare...

About DYNC1H1 Associated Neurological Disorders DYNC1H1 Associated Neurological Disorder (DAND) encompasses a recently identified group...

About NARS1 Disorder The first pathogenic variants for NARS1(asparaginyl-tRNA synthetase 1) disorder were reported in 2020. The NARS1...

About Pediatric Epilepsy Surgery: Surgery is the least utilized treatment in all of epilepsy. Many different surgeries can stop or reduce...

About CTNNB1 syndrome CTNNB1 syndrome is a rare neurodevelopmental disorder caused by variants in the CTNNB1 gene, located at 3p21. As of...

About ASXL-related disorders ASXL-related disorders are ultra-rare neurodevelopmental disorders typically caused by a de novo change to...

About DLG4 Synaptopathy DLG4-related synaptopathy is the medical diagnostic term, though most families refer to the disorder as SHINE...

About PERC The Pediatric Epilepsy Research Consortium (PERC) began forming in 2010 when two groups each began an effort to mobilize and...

Introducing Lennox-Gastaut Syndrome (LGS) Foundation

This September marks the annual Newborn Screening Awareness Month. This month is dedicated to celebrating and raising awareness for...