Brain Representation of Acquisition in Humans of Motor-Sensory Skills
EpilepsyCerebral TumorInteractions between the perceptual and motor systems are fundamental to the performance of complex motor tasks and are at the heart of the fine motor control required for the production of complex sounds such as speech production or playing a musical instrument. In such situations, the brain must learn to generate relevant motor commands to a sound-producing system with fixed physical characteristics, such as the vocal tract or a musical instrument. No study has yet been able to directly test the dynamic aspect of this sensorimotor learning in an acoustic production task with fine motor control. The Adolphe de Rothschild Foundation Hospital takes care of patients requiring awake surgery. During these procedures, a direct cortical recording, called electro-corticography, is performed in order to better delineate the tumor or epileptogenic resection area. Reference recordings are made in healthy areas at a distance from the lesion site making it possible to record normal brain activity. In this case, we would propose to the patient to use a tool similar to the theremin (a musical instrument the size of a golf ball whose displacement in space modulates the frequency and the harmonics of a sound). The patient should therefore learn in order to create relevant motor patterns.
Sleep Problems in Epileptic Children and Their Caregivers
Epileptic Children,Sleep Disturbances,Maladaptive BehaviorsThe aim of this study is to investigate the frequency of sleep problems in epileptic children and their caregivers.
Genetics of Severe Early Onset Epilepsies
EpilepsyEpileptic Encephalopathy6 moreInvestigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to disorders related to epilepsy. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.
Risk Factors for Sudden Unexplained Death in Epilepsy
SUDEPThe main purpose of this study is to develop a North American registry for SUDEP cases; requesting family members of epilepsy patients who died suddenly of unclear causes (SUDEP) to contact the study team. The family members who decide to participate in the study will be asked to complete a brief telephone interview about their loved one's epilepsy and seizure history and the circumstances of his or her death. If the death has occurred within the past 24 hours, and the family is willing to consider donating tissue to the study, the subject will be transferred to the Autism Tissue Program, and the remainder of the phone interview will be conducted at a later time. In addition to the phone interview, the family will be asked to provide access to the deceased's medical records. Any costs involved in obtaining medical records will be covered by the study, and all medical information will remain completely confidential.
Risk Factors and Etiologies of Epilepsy in Urban and Rural Rwanda
EpilepsyEpilepsy is one of the most common chronic brain disorders. Up to 85% of persons living with epilepsy (PwE) live in the developing world. In sub-Saharan Africa (SSA), Rwanda has one of the highest prevalence rates (±5%). Higher prevalence in low-and middle-income countries (LMICs) can partly be attributed to differences in risk factors for epilepsy of which a great number are preventable. Expanding knowledge on risk factors and etiologies of epilepsy in Rwanda can lower the portion of preventable epilepsies and decrease the high number of Rwandan PwE. This project will focus on the investigation of risk factors and etiologies of epilepsy in urban and rural Rwanda using a nationwide approach.
Genetic Investigations in Children With Developmental and Epileptic Encephalopathies in Ho Chi Minh...
Whole Exome SequencingEpileptic EncephalopathyEarly childhood is one of the periods of life in which the risk to develop epilepsy is highest. Besides, genetic causes are much more common in the young. Recently, an ever-increasing amount of genes has been found to be involved in numerous early-onset epilepsies. Thanks to next-generation sequencing (NGS), a diagnosis can now be reached in close to 50% of children with epilepsy and developmental delay. This, in turn, has led to the successful application of the concept of individualized treatment in a growing number of children with epilepsy. Genetic investigations have thus been progressively included in the routine work-up of children with early-onset epilepsies throughout the world, mostly in high-income countries up to now. As a result of a scientific collaboration between pediatric neurology divisions at University Hospitals Geneva (HUG), Switzerland, and Children's Hospital 2 in Ho Chi Minh City (HCMC), Viet Nam, genetic testing of children with early-onset epilepsies followed at the pediatric neurology division, Children's Hospital 2 started at the genetics laboratory of the Vietnam National University in 2017. Aims: Our project aims at establishing the proportion of patients in whom a causal genetic finding can be identified, in a prospective cohort of children with Developmental and Epileptic Encephalopathies (DEE) followed at Children's Hospital 2 (ND2). We also aim at identifying the percentage of these children in whom this approach would change current management. Methods: A series of children diagnosed with DEE and followed at ND2 Hospital, enrolled consecutively. Exome sequencing was applied to all, with biostatistical analyses of a panel of 671 genes involved in epilepsies and developmental disorders performed in parallel at Ho Chi Minh City Vietnam National University and Geneva Genetic Medicine Division. Sanger sequencing confirmation of potentially causal variants in patients, and in parents for familial segregation. Comparison of Vietnamese and Swiss genetic findings, and multidisciplinary discussions in formal Genome Boards. Additional genetic investigations, if deemed necessary in Genome Board sessions. Clinical management adapted to genetic findings wherever applicable, and follow-up according to standard practice. One-hundred-and-fifty patients are expected to participate during the 3-year study period.
A Study of Detection of Paroxysmal Events Utilizing Computer Vision and Machine Learning - Nelli...
EpilepsyNelli is a video-based non-EEG physiological seizure monitoring system. This study is a blinded comparison of Nelli's identified events to gold-standard video EEG review in at-rest pediatric subjects with suspected motor seizures.
Study of Attentional Disorders in Patients Suffering From Idiopathic Generalized Epilepsy.
Idiopathic Generalized EpilepsyAttentional disorders have been reported in neuropsychological studies evaluating patients suffering from generalized idiopathic epilepsy, but the data are disparate (in terms of test protocol). We aim to describe attentional and executive function disorder in IGE thanks to the Epitrack scale, validated in this specific population. Our secondary objective is to study the dynamic of cortical activity during an attentional task (the ANT), in order to describe the alteration of cortical networks in epileptic patients presenting with attentional disturbance.
Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy
Neonatal SeizureHypoxic-Ischemic Encephalopathy4 moreThe NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of post-neonatal epilepsy among children with acute provoked neonatal seizures. The researchers aim to develop prediction rules to stratify neonates into low, medium, and high risk for post-neonatal epilepsy based on clinical, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic risk factors.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford...
Rare DisordersUndiagnosed Disorders316 moreCoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.