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...

The newly added REN Map. The Rare Epilepsy Network has created a new page for families and clinicians to use! With 80+ organizations...

The month of July marks Social Wellness Month! Social Wellness Month is meant to highlight the positive effects of healthy relationships...