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.
Description: This study is looking at the types of seizures that children have compared to the ion channel mutation to learn more about this specific cause of epilepsy and epilepsy in general. Studying the effect of seizure medications on mutated channels in the lab may eventually lead to the discovery of new treatments for childhood epilepsy and lead to a goal of effective personalized medicine.
Epilepsy Genetics Initiative (EGI) Repository Study
Description: EGI is a database created to hold the genetic data of people with epilepsy. The purpose of this study is to identify genetic causes for epilepsy and associated problems such as developmental delay, intellectual disability, and other neurological or neurodevelopmental disorders. In this study, EGI seeks to compile clinical data from epilepsy patients to further advance genetic research, with the ultimate goal of providing genetic diagnoses to families of people with these conditions.
Epilepsy Precision Medicine - Whole Genome Sequencing and its place in the Clinical Testing Algorithm
Description: The purpose of this study is to identify the best genetic tests for patients with epilepsy. Currently a number of different genetic tests are used to identify a genetic cause for epilepsy. In order to determine which test is most useful for providing patients with epilepsy information about a genetic cause, the following test will be compared in the study: microarray testing, epilepsy gene panel sequencing, total human disease gene sequencing, whole exome sequencing and whole genome sequencing. Some variable include, how well each test identifies any important genetic changes, how long it took to get the results and how much the testing cost.
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.
Description: The main goal of this study is to test a new process for selecting the best antiepileptic drug for children with epileptic channelopathies and evaluate if these strategies improve neurological and developmental outcomes.