View clinical trials related to Epilepsy.
Filter by:Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new entity frequently associated with refractory epilepsy and neurodevelopmental disorders. Recently, it has been associated to SLC35A2 (Solute Carrier Family 35 Member A2) brain mosaic pathogenic variants. In addition, patients with germline SLC35A2 pathogenic variants improve with galactose supplementation. Therefore, the investigators aim to elucidate whether d-galactose as an add-on treatment might improve epilepsy and developmental outcomes in patients with MOGHE.
Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). EOEE are rare and severe epileptic syndromes characterized by epilepsy that begins within the first three months of life and is associated with rapid deterioration of motor, cognitive and behavioral skills. There is a genetic basis for the EOEE. Together with other laboratories, the investigators have identified de novo pathogenic variants in the KCNQ2 gene encoding the Kv7.2 subunit of the Kv7 / M potassium channel, a channel known to control neuronal excitability in the brain and spinal cord. via the current M (IM). Pathogenic variants of the KCNQ2 gene represent the main cause of EOEE and the term KCNQ2-related epileptic encephalopathy (KCNQ2-REE) is now used to define this condition. KCNQ2-REE patients have a remarkably homogeneous phenotype at the start, with epilepsy that begins in the first days after birth, seizures that result in tonic muscle spasms that last from 1 to 10 seconds, and an interictal EEG called "suppression-burst". "That is, paroxysmal bursts of activity interspersed with periods of electrical silence. In this group, more than 50% of the patients present a remission of the epilepsy and a quasi-normalization of the EEG which can occur a few weeks to several months after the onset of the seizures. Despite this positive evolution in terms of seizures, the developmental progression is abnormal and the phenotype is severe with an absence of language, autistic behavior and a subsequent development of motor disorders such as diplegia, spasticity, ataxia or dystonia. The ambition of this project is to increase knowledge of epileptic encephalopathies linked to KCNQ2 at the clinical and molecular levels, to decipher the pathophysiological mechanisms and to propose therapeutic strategies. This project aims to better describe the clinical, EEG, imaging, developmental and long-term follow-up characteristics of patients carrying the KCNQ2 mutation identified in the laboratory.
In this project EEG recordings between healthy participants and those with a diagnosed Absence-epilepsy will be compared. The investigators suggest differences in EEG microstate analysis and neuropsychological parameters related to interictal cognitive impairment in these patients. This projects goal is to derive an EEG-based measure of conscious awareness.
This study will investigate the role of coordinated brain rhythms during sleep in memory consolidation and determine whether playing precisely timed brief bursts of noise can enhance these rhythms and improve memory in epilepsy inpatients with implanted hippocampal electrodes.
Deep Brain Stimulation (DBS) of the anterior nucleus of the thalamus (ANT) has been proposed in patients with severe intractable epilepsy. When used, the transventricular approach increases the risk of bleeding due the anatomy around the entry point in the thalamus. To avoid such a complication, the investigators used a transventricular microendoscopic technique.
This is a multiple site, randomized, double blinded parallel-group controlled study. The purpose of this study is to evaluate efficacy, safety, and tolerability of repeated, daily sessions with the STARSTIM device, which delivers transcranial cathodal direct current stimulation (tDCS). Subjects will be treated with STARTSTIM or sham device for 10 sessions over a 2-week period. The subjects will be followed for an additional 10 weeks post treatment. Quality of Life questionnaires and adverse events will be collected and evaluated.
A significantly higher proportion of patients with rare diseases (RD) with intellectual disability (ID), present hyperphagia, overweight or obesity, compared to the general population. Prader-Willi syndrome is the only genetic obesity identified to date associated with hyperghrelinemia, while ghrelin levels are lower than in controls in other situations of obesity. The aim of the study is to find out whether the levels of ghrelin, which are abnormally high in PWS throughout life, are also high in these RD when people have hyperphagia and/or overweight.
A prospective prevalence study recorded that up to 50% of adult patients with newly diagnosed epilepsy had at least one cognitive impairment before initiation of antiepileptic drug (AED). Multiple factors exist and interact in the same patient. Cognitive impairments may affect psychiatric (loss of self-esteem, anxiety, depression) and social status (e.g., vocational aptitude, educational). These factors in turn influence cognitive abilities in a triangular and bidirectional relationship. In addition, the type of epilepsy, development in childhood or cerebral ageing, antiepileptic treatments (AED, surgery) and etiology also have an impact on cognitive performances. The burden of these factors differs from patient to another and must be determined individually. Longitudinal follow-up seems to be crucial because it will allow us to highlight the change in the cognitive profile of newly diagnosed patients over time. The main objective is to compare the prevalence of cognitive impairment in patients with newly diagnosed epilepsy prior to the initiation of AED with healthy subjects matched on age, sex, manual laterality and socio-educational level. But also to compare the longitudinal evolution of the cognitive profile of patients with healthy controls (0 to 10 years) to determine, among the age of onset seizures, their etiology, the syndrome, the sex, the socio-educational level and the cognitive reserve, which one are related to the severity of cognitive disorders.
the investigators have recently shown that patients with drug-resistant temporal lobe epilepsy who have undergone brain surgery targeting the medial temporal lobe structures were more likely to develop tinnitus postoperatively. This discovery of a vulnerability to tinnitus associated with medial temporal lobe surgery to eliminate drug-refractory epileptic seizures provides a new clinical model of tinnitus, targeting temporal lobe regions as generators or mediators of this hearing disorder. The objective of this project is to study the impact of tinnitus on the cognitive, emotional, psychoacoustic and cerebral functioning associated with this hearing disorder, and to clarify the pathophysiology of tinnitus by comparing different groups of individuals with tinnitus (surgical epileptic patients or non-surgical ORL patients) to matched tinnitus-free groups (surgical tinnitus-free cases and healthy controls volunteer).
Sleep slow waves (SSW) and the pathophysiological mechanisms of spike generation in patients with epilepsy are tightly linked. SSW are cortically generated oscillations (~1 Hz) alternating between a hyperpolarized down-state (neuronal silence) and a depolarized up-state (neuronal firing). It has been shown experimentally that with increasing synchrony of slow neuronal oscillations, spike wave occurrence is facilitated. Auditory stimulation applied in correspondence to the SSW "up-phase" may increase the amplitude of the following SSW. Contrarywise, tones applied at the SSW "down-phase" may have a disruptive effect on SSW. Participants: Patients with epilepsy with epileptic discharges in their sleep EEG, as well as healthy controls Objective: Characterizing the effects of down-phase-targeted auditory stimulation on behavior and sleep EEG characteristics and determine whether the changes in sleep EEG characteristics are associated with the changes in behavior and wake EEG characteristics.