Description: The purpose of this research study is to collect and store tissue, cerebrospinal fluid (CSF), blood, urine samples and clinical information so that researchers can help find the causes of and new treatments for seizures through genetic testing.
Evaluation of Induced Pluripotent Stem Cells and Cell Physiology in Children with Intractable Epilepsy Secondary to Ion Channel Mutations
Description: This study is being done to learn more about ion channel mutations in children and adults with epilepsy. This study is also being done to learn more about how ion channel mutations affects brain cells to cause seizures and to learn more about which medication may be helpful in treating seizures and to discover new medications for the treatment of epilepsy.
Genetic Basis and Molecular Mechanisms of Pediatric Epilepsies
Description: The primary aims of this study are to identify the genetic causes of pediatric epilepsy, characterize the clinical spectrum associated with these genetic variants, and to understand the biological processes that underpin these conditions.
A Learning Healthcare System for Pediatric Epilepsy
Description: This study is designed to create a "learning healthcare system" for pediatric epilepsy, in which clinical data are collected, analyzed, and rapidly disseminated to change practice and improve outcomes. This is a multicentered collaborative group of pediatric epilepsy clinicians and researchers who are working to develop algorithms to identify individuals with specific subtypes of epilepsy and create an active registry of children with epilepsy.
Description: The Early Life Epilepsy Natural History Project has been designed with parents and providers to identify the nature and range of the many challenges affecting children and young people with early life epilepsies. These areas include the seizures but also, sleep, behavior, communication, gross and fine motor and more. The information that comes from this project will be used to inform parents and educate providers about what to expect in a child with different forms of early life epilepsy. It will help us understand the relationships between seizures, sleep, communication, cognition, behavior motor function, and other important areas for children and families. Such information can also help support the design of clinical trials of new therapies and can be used for advocacy with policy makers.
Establishing Biomarkers for Early Diagnosis and Prognostication in Sturge-Weber Syndrome
Description: The main goals of this study are to establish a clinical database of patients with Sturge-Weber syndrome (SWS) at Lurie Children’s and to collect blood samples to test in a research laboratory setting for the presence of pathogenic GNAQ variants.
Description: The main goals of this study are to characterize key clinical features in children with rare neurodevelopmental disease and to collect and store cells from blood samples to study further in a research laboratory setting.
Metabolomic profiles of patients on ketogenic diet