Evaluation of Ketoflo
Epilepsy IntractableGlucose Transporter Type 1 Deficiency Syndrome1 moreFor 28 days, 30 participants aged 3 to 18 years of age (inclusive) with a condition requiring a ketogenic diet will incorporate Ketoflo into their usual dietary regime. Ketoflo is a nutritionally complete Food For Special Medical Purposes and is suitable for administration by both tube feeding and use as a sip feed. Data on gastrointestinal tolerance, participants adherence to recommended intakes and their thoughts on the product's palatability will be self-reported in Daily Study Diaries.
Optimization of Deep Brain Stimulation Parameters in Patients With Medically Refractory Epilepsy...
Refractory EpilepsyDeep Brain StimulationDeep brain stimulation (DBS) is used to treat epilepsy in cases where patients are medically refractory and are not candidates for surgical resection. This therapy has been shown to be effective in seizure reduction, yet very few patients achieve the ultimate goal of seizure freedom. Implantable neural stimulators (INSs) have many parameters that may be adjusted, and could be tuned to achieve very patient specific therapies. This study will develop a platform for stimulation setting optimization based on power spectral density (PSD) measures.
Neural Mechanisms of Spatial Representations Beyond the Self
Epilepsy IntractableSpatial navigation is a fundamental human behavior, and deficits in navigational functions are among the hallmark symptoms of severe neurological disorders such as Alzheimer's disease. Understanding how the human brain processes and encodes spatial information is thus of critical importance for the development of therapies for affected patients. Previous studies have shown that the brain forms neural representations of spatial information, via spatially-tuned activity of single neurons (e.g., place cells, grid cells, or head direction cells), and by the coordinated oscillatory activity of cell populations. The vast majority of these studies have focused on the encoding of self-related spatial information, such as one's own location, orientation, and movements. However, everyday tasks in social settings require the encoding of spatial information not only for oneself, but also for other people in the environment. At present, it is largely unknown how the human brain accomplishes this important function, and how aspects of human cognition may affect these spatial encoding mechanisms. This project therefore aims to elucidate the neural mechanisms that underlie the encoding of spatial information and awareness of others. Specifically, the proposed research plan will determine how human deep brain oscillations and single-neuron activity allow us to keep track of other individuals as they move through our environment. Next, the project will determine whether these spatial encoding mechanisms are specific to the encoding of another person, or whether they can be used more flexibly to support the encoding of moving inanimate objects and even more abstract cognitive functions such as imagined navigation. Finally, the project will determine how spatial information is encoded in more complex real-world scenarios, when multiple information sources (e.g., multiple people) are present. To address these questions, intracranial medial temporal lobe activity will be recorded from two rare participant groups: (1) Participants with permanently implanted depth electrodes for the treatment of focal epilepsy through responsive neurostimulation (RNS), who provide a unique opportunity to record deep brain oscillations during free movement and naturalistic behavior; and (2) hospitalized epilepsy patients with temporarily implanted intracranial electrodes in the epilepsy monitoring unit (EMU), from whom joint oscillatory and single-neuron activity can be recorded.
Transcranial Direct Current Electrical Stimulation (tDCS) in Drug-resistant Epilepsy
EpilepsyThis project aims to conduct a pilot study based on the targeting of the epileptogenic zone previously localized very precisely by stereoelectroencephalography (SEEG). SEEG is used as part of the pre-surgical assessment. It consists, thanks to the intracerebral implantation of electrodes in the brain of patients, to perform an intracerebral electrophysiological recording and thus to precisely explore the epileptogenic regions. In order to study the neuromodulatory and therapeutic effects of tDCS on epileptic brains, non-invasive techniques for measuring electrophysiological brain activity such as magnetoencephalography (MEG) and high-resolution electroencephalography (HR EEG) will be used. Finally, since epilepsy is considered to be a disorder of brain functional networks associated with disturbed brain connectivity, the effects of tDCS on cortical excitability by studying the variations in functional connectivity induced by stimulation will be studied.
Add-on Clioquinol in Drug-resistant Childhood Epilepsy: an Exploratory Study
Epilepsy IntractableIn this exploratory trial, the potential anti-seizure activity of clioquinol in a small cohort of adolescents with drug-resistant epilepsy will be examined. Subjects will be exposed to clioquinol add-on for a period of maximum 8 weeks (2 weeks low dose, 6 weeks higher dose). The main hypothesis of the study is that 30% of the included subjects will be responders and that the median seizure frequency reduction will be at least 30%.
Diffusion Tensor and Functional Connectivity Imaging in Pediatric Epilepsy: Imaging/Histology Correlation...
Intractable EpilepsyTo determine the utility of diffusion tensor magnetic resonance imaging in the preoperative workup of children with intractable epilepsy referred for surgery.
Localizing Epileptic Networks Using MRI and iEEG
EpilepsyEpilepsy Intractable2 moreUpon successful completion of this study, the investigators expect the study's contribution to be the development of noninvasive imaging biomarkers to predict IEEG functional dynamics and epilepsy surgical outcomes. Findings from the present study may inform current and new therapies to map and alter seizure spread, and pave the way for less invasive, better- targeted, patient-specific interventions with improved surgical outcomes. This research is relevant to public health because over 20 million people worldwide suffer from focal drug-resistant epilepsy and are potential candidates for cure with epilepsy surgical interventions.
Contribution of Genetics, Non-invasive Methods and Neuropsychology in Focal Cryptogenic Epilepsies...
EpilepsiesPartial1 morePatients with cryptogenic focal epilepsy (unknown cause) represent about the 30% of the entire population of epilepsy patients. Among them, about 30% are drug-resistant. The implementation of of high-field magnetic resonance imaging resolution, the new Next Generation Sequencing techniques,and innovative non-invasive neurophysiological methods (Electroencephalogram-Functional magnetic resonance imaging and High Density-Electroencephalogram) could provide a superior identification of the epileptogenic zone and therefore an increased access to epilepsy surgery. Despite this, patients with cryptogenic epilepsy require more frequently invasive methods of presurgical study and they have more unfavorable results than patients with lesions detectable on magnetic resonance imaging. Within this context, the study is aimed at integrating the neurophysiological, radiological, neuropsychological and genetic aspects of patients with focal cryptogenic epilepsy in order to evaluate their surgical eligibility,sparing invasive methods.
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants...
Mitochondrial DiseasesDrug Resistant Epilepsy6 moreThis is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase. After completion of the randomized, placebo-controlled phase, participants may enter a 48-week, long-term, extension phase during which they will receive open-label treatment with vatiquinone.
Neuronal Mechanisms of Human Episodic Memory
Epilepsy IntractableThe purpose the research is to better understand how the human brain accomplishes the basic cognitive tasks of learning new information, recalling stored information, and making decisions or choices about presented information. These investigations are critical to better understand human cognition and to design treatments for disorders of learning and memory.