Identification of Volatile Organic Compounds (VOCs) as Biopredictors of Epileptic Seizures
EpilepsyThe unpredictable nature of epileptic seizures places people with epilepsy under permanent psychological stress, which contributes significantly to a restriction in their quality of life. The possibility of predicting the arrival of epileptic seizures would allow, in addition to taking a preventive treatment if the risk of seizure is close, to prevent traumas and accidents linked to possible falls during seizures, to authorize driving for certain people with epilepsy and to reduce the costs of medical care. To date and to our knowledge, no seizure detection device has been commercialized. There are commercialized devices based on biometric sensors other than EEG, but these are strictly dedicated to the detection of seizures and do not allow the anticipation of seizures. Regarding prediction, current research seems to have difficulties in developing convincing algorithms. The only system used successfully in real time would require a device implantable in the brain, but this would raise problems of acceptability. In addition, 20% of people with drug-resistant epilepsy have psychogenic non-epileptic seizures (PNES). These are sometimes difficult to differentiate from epileptic seizures by people with epilepsy and their caregivers, and their management differs from that of epileptic seizures. The distinction between these 2 types of events should also be taken into account by these prediction/detection tools. From the field of biomedical detection dogs, there is currently a converging body of evidence supporting that people with epilepsy emit specific odors associated with seizure events. Trained dogs have been shown to be able to discriminate body odors sampled during or just after an epileptic seizure from those sampled from the same subjects in various contexts outside of a seizure. It was also shown that a seizure can also be predicted by the volatile organic compounds (VOCs) released by the patient (human volatilome); the olfactory signature being already detectable up to 3h before a seizure. Another study used trained dogs to confirm that they are able to detect a seizure by smell and that this olfactory difference is already detectable before a seizure. The human volatilome VOCs lead is particularly promising, notably for its non-invasiveness and for the pre-ictal precocity that prediction allows. But at the moment, the studies are too studies are too preliminary, with sample sizes too small to conclude on the inter-individual generalization of the odor, taking into account the type of seizure involved and the influence of other variables (e.g., gender, age, medications). Moreover, in order to develop a reliable and transportable electronic detection tool, the identification of the VOCs involved is necessary, since the choice of sensors (e.g., to constitute an electronic nose) depends on it. The objective of this study is to overcome these shortcomings, by aiming at the identification of the informative odor(s) associated with epileptic events during the pre-ictal, ictal and post-ictal periods, taking into account the type of seizures (focal seizures, secondary generalized focal seizures, primary generalized seizures - motor and non-motor) and the inter-individual differences.
High-field MR Imaging in Migraine and Epilepsy
MigraineEpilepsyIn this project, the aim is to recruit patients with drug resistant epilepsy and those suffering from migraine. Interestingly, patients suffering from epilepsy are also more often reporting to suffer from migraine. The pathobiology is understudied, but it is believed that both etiologies results from brain networks changes. A clinical certified 7T Terra Siemens scanner will be employed to assess in all participants (including healthy controls) how the microstructure differs in disease specific areas. Patients will further be clinically assessed as well as undergo questionnaires.
Investigating Surprise Signals in the Anterior Insula
Drug Resistant EpilepsyHealthyThe investigators propose a behavioral experiment with SEEG recording and stimulation, to both confirm the role of a brain region known as the anterior insula in identifying surprise, and disambiguate between competing principles behind adaptation: optimizing and satisficing. Optimizers continue to learn and adapt if performance can be improved, while satisficers are satisfied with a good enough performance and will cease adapting once that is reached. To study surprise signals in the anterior insula, a brain structure where these signals have been very prominent, the investigators will employ an experiment with subjects who are under SEEG (stereoelectroencephalogram) recording, that is, recording from electrodes which have been surgically implanted in the brain. These recordings will be done as patients perform a task where they try to anticipate the movements of a target on a line in two different learning environments (conditions). The experimenters will then determine whether these signals reflect surprise relative to past engagement with the environment, or surprise that reveals that the agent no longer feels in control because uncertainty is not in line with the reference model. If evidence is consistent with the former, adaptation reflects traditional reinforcement and aims at optimizing behavior. If evidence instead is consistent with the latter, behavior is guided by a prior model (a reference model) and behavior is satisficing. An fMRI study by d'Acremont and Bossaerts provides initial evidence that activation in the anterior insula supports the satisficing hypothesis, however it lacks the temporal granularity to completely rule out optimizing. In the current project, the investigators propose to use the higher time resolution of SEEG recordings to confirm these findings and reject the optimizing hypothesis. Additionally, stimulations of the anterior insula during a subset of trials will be used to determine whether insular activation following surprise signals and preceding changes in behavior (learning) is merely correlational or in fact causal. Stimulation will allow us to determine to what extent the subjects' sense of control and subsequent behavior can be influenced in accordance with surprise-based modeling of behavior. The cohort for this study will be patients with drug-resistant, focal epilepsy and who are hospitalized at the Hôpitaux Universitaires de Genève (HUG) for pre-surgical evaluation of their epilepsy using SEEG. The protocol will run in parallel with the patients' clinical procedures.
Evaluation of Krio in Children and Adults With Epilepsy
Ketogenic DietingEpilepsy1 moreAcceptability study to evaluate the gastrointestinal tolerance, palatability and participant compliance, over a 7-day period, of Krio for the dietary management of participants with intractable epilepsy or Glut-1 deficiency syndrome patients on a ketogenic diet.
Discard the Curative Causes of Late Onset Epilepsy: the Role of Brain 18F-FDG PET
Late Onset EpilepsyAlzheimer DiseaseEtiology and cognitive prognosis in late onset epilepsy differ from young adults epilepsy. At the epilepsy onset, this is crucial to detect potential curative/treatable brain disorders. After classical investigation including morphological brain imaging, EEG, clinical assessment, which added value may have brain FDG PET in the diagnosis and prognosis evaluation?
Natural History Study in Pediatric Patients With STXBP1 Encephalopathy With Epilepsy
STXBP1 Encephalopathy With EpilepsyThis is a prospective, non-interventional, longitudinal study designed to characterize the natural history of STXBP1 related encephalopathy with epilepsy, in participants ≤ <5 years of age.
A Clinical Study of Epilepsy Localization and Prognosis Based on PET and Resting-state fMRI
Epileptic SeizureBy following up the prognosis of surgical patients, the application value of Cortex ID quantitative analysis in the localization of epilepsy foci was studied. By studying the correlation between autonomic nerve function and epilepsy neural network in epilepsy patients, and analyzing the differences between different epilepsy patients, it can provide more information for judging the prognosis of epilepsy patients.
Verapamil and Catamenial Epilepsy
Catamenial EpilepsyOne in 3 epilepsy patients have refractory seizures. This drug resistance is likely related to the over expression of multidrug resistance proteins (MDR). Progesterone is a known inhibitor of MDRs and the low level of this hormone during the menstrual cycle may exacerbate seizures, perhaps explaining catamenial epilepsy; i.e. seizures occurring during the menstrual cycle. Verapamil suppresses seizures in animal models of epilepsy perhaps by inhibiting MDRs and thus may help patients with refractory seizures. If the study shows improved seizure control, the results will help establish the role of MDRs in refractory epilepsy.
Detecting Absence Seizures Using a Hyperventilation and Eye Movement Recordings
Absence EpilepsyChildhood5 moreThis study is being done to find out if a smartphone app can identify absence seizures. Children who have a history of absence seizures, as well as children without any seizure history, will be testing out the app. If participating the child will be guided through hyperventilation, an activity that asks the child to take quick, deep breaths. The app will record video of the child's face and sounds they make during hyperventilation. Hyperventilation is a safe and established technique frequently used during EEG (electroencephalogram) to encourage seizure occurrence. The App will be used during a regularly scheduled EEG.
Clinical Interest of a Genetic Diagnosis in Early Infant Epilepsy, Paraclinical and Therapeutic...
Early Infant EpilepsyTo determine the paraclinical and therapeutic interest of genetic diagnosis in early onset epilepsy.