Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)
Focal Cortical DysplasiaEpilepsyFocal cortical dysplasia (FCD) is a malformation of brain development, the most common cause of drug-resistant epilepsy and often caused by mutations in mammalian target of rapamycin (mTOR) pathway genes. Patients with FCD develop drug-resistant seizures. This study will look at FCD tissue removed during epilepsy surgery and aims to detect mutations in mTOR pathway genes in brain cells. Secondly, the investigators will establish if evidence of mutations found in brain cells can also be detected as circulating free DNA (cfDNA) in blood. By looking at which genes are made into proteins in individual cells found in epilepsy surgical tissue (single cell expression profiling),the investigators will attempt to identify new genetic targets in FCD. The main outcome will be finding new causes of epilepsy with FCD and the development of new diagnostic and screening tools.
DigitalEPI - A Prospective Pilot Study
EpilepsyNot all patients with epilepsy requiring advanced checkups in specialized tertiary centers can be admitted for long-term video EEG monitoring. Home EEG recordings or home EEG monitoring using self-applicable EEG recording systems would therefore help overcome an unmet need in the treatment of such patients. Dry electrode EEG systems are more user-friendly than wet electrode EEG systems. In this study, the quality of EEG recordings with a novel dry electrode EEG system (Atlas with dry electrodes) will be compared with the quality of recordings with a conventional wet electrode EEG system used in clinical practice. Secondly, the quality for medical reporting of self-recorded EEG at home by patients with the dry electrode EEG system (Atlas with dry electrodes) will be compared to recordings with the same system in a clinician's office by specialized staff. Thirdly, there will be an exploratory assessment of the value for diagnostics of EEG data from multiple home-recorded dry electrode EEGs, automatic analysis of those recordings and data from a wrist device. The patients that fulfill inclusion criteria and do not meet exclusion criteria will all undergo the following: a visit to a clinic where a health care professional will record (1) their EEG activity for 15 minutes using a CE-certified EEG device with wet electrodes; and immediately after record (2) their EEG activity for 15 minutes using the investigational EEG device "Atlas with dry electrodes" self-record their EEG activity at home, using the EEG device "Atlas with dry electrodes", at least twice per day, for 14 days; during this phase, continuous non-invasive recordings of bio signals, i.e. heart rate, muscle activity, using the Empatica EmbracePlus device will be recorded and patients will report events or findings in a paper based study diary. a last visit to the clinic to return equipment, study diary and fill in questionnaires
EAGLET: EEG vs aEEG to Improve the Diagnosis of neonataL Seizures and Epilepsy
Neonatal SeizuresThe current project undertakes a prospective multicentre randomised controlled trial to evaluate whether full or continuous electroencephalography (cEEG) is superior to amplitude-integrated electroencephalography (aEEG) in the real time evaluation and diagnosis of neonatal seizures and in reducing time to treatment. At-risk new-born infants will be recruited on the participating neonatal intensive care units (NICUs) by trained specialist staff and will have 24 hours of EEG monitoring.
A Room Temperature Atomic Magnetrode System for Telemetry of Epileptic Seizures
EpilepsyThis study is being done to help scientists learn about the use of a device called an atomic magnetometer. The device uses sensors called optically-pumped magnetometers (OPM) which function at room temperature. This research will compare the non-invasive brain imaging application of the OPM sensors to the present SQUID-based cryogenic sensor technique used in conventional Magnetoencephalography (MEG). This study is being conducted in conjunction with the University of Colorado Boulder's Mechanical Engineering Department.
A Prospective Diagnostic Belief Updating Study to verIfy the Utility of BioEP in First Seizure Clinics....
EpilepsyThe goal of this belief updating study is to assess the utility of BioEP as a complementary support tool in aiding clinical decision making in adults in first seizure clinics. The main outcomes we shall measure are: Clinicians' perception of seizure probability. Clinicians' decision to recommend commencing or deferring ASM (anti-seizure medications) Clinicians' decision to refer for additional investigations/services. Participants will consent to have their EEG (that is taken at their routine care) to be used in the study. There is not extra burden to the participants taking part in the study.
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.
Systematic Evaluation of VNS Parameters
EpilepsyThe goal of this study is to measure the activation of the vagus nerve and the side effects of vagus nerve stimulation (VNS) (neck muscle contractions, changes in heart rate) across a range of stimulation parameters typically used in VNS therapy for epilepsy (pulse durations, pulse amplitudes, pulse repetition rates). This mapping of the parameter space may inform future device programming to improve electrical activation of the vagus nerve and/or to reduce side effects, and it may be used for validation of computational models. The study will recruit adult participants with epilepsy who are undergoing surgery either for an initial implant of a VNS device or for replacement of the implanted pulse generator (IPG) due to battery depletion. During surgery, the study will involve stimulating the vagus nerve via the standard implanted clinical VNS electrodes over a range of stimulation parameters while recording the activity of the vagus nerve (electroneurogram (ENG)), electromyogram (EMG) response of neck/throat muscles, and the heart rate (electrocardiogram (EKG)). Stimulation parameters will be within the ranges used for clinical therapy and below limits established for non-damaging electrical stimulation.
Modulating Oscillations and Working Memory in Patients With Subdural Electrodes
Working MemoryEpilepsyPurpose: To investigate whether rhythmic direct electrical stimulation (DES) causes entrainment of endogenous neural oscillatory activity and whether such activity improve cognition. Participants: Drug-resistant epilepsy patients undergoing epilepsy surgery cortical mapping with continuous electrocorticography (ECoG) with intracranial electrodes. Procedures (methods): Rhythmic electrical stimulation will be delivered via intracranial electrodes during routine extra-operative cortical mapping. Long-term ECoG, Pre-stimulation ECoG, peri-stimulation ECoG, and post-stimulation ECoG data will be analyzed to assess for entrainment of neural oscillations.
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.
Neural Mechanisms for Stopping Ongoing Speech Production
EpilepsySpeechSpeech and communication disorders often result in aberrant control of the timing of speech production, such as making improper stops at places where they should not be. During normal speech, the ability to stop when necessary is important for maintaining turn-taking in a smooth conversation. Existing studies have largely investigated neural circuits that support the preparation and generation of speech sounds. It is believed that activity in the prefrontal and premotor cortical areas facilitates high-level speech control and activity in the ventral part of the sensorimotor cortex controls the articulator (e.g. lip, jaw, tongue) movements. However, little is known about the neural mechanism controlling a sudden and voluntary stop of speech. Traditional view attributes this to a disengagement of motor signals while recent evidence suggested there may be an inhibitory control mechanism. This gap in knowledge limits our understanding of disorders like stuttering and aphasia, where deficits in speech timing control are among the common symptoms. The overall goal of this study is to determine how the brain controls the stopping of ongoing speech production to deepen our understanding of speech and communication in normal and impaired conditions.