SLC13A5 Deficiency Natural History Study - Remote Only
Citrate Transporter DeficiencyEpilepsy8 moreSLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.
Pediatric EEG Monitoring
Pediatric ALLEpilepsyThe purpose of this study is to understand if a new, smart, wireless EEG developed by our team can be used to monitor the continuous electrical activity of the brain in the ICU and EMU and whether it works as well as the current standard, wired EEGs.
Functional Organization of the Superior Temporal Gyrus for Speech Perception
EpilepsyBrain Tumor1 moreThe basic mechanisms underlying comprehension of spoken language are still largely unknown. Over the past decade, the study team has gained new insights to how the human brain extracts the most fundamental linguistic elements (consonants and vowels) from a complex and highly variable acoustic signal. However, the next set of questions await pertaining to the sequencing of those auditory elements and how they are integrated with other features, such as, the amplitude envelope of speech. Further investigation of the cortical representation of speech sounds can likely shed light on these fundamental questions. Previous research has implicated the superior temporal cortex in the processing of speech sounds, but little is known about how these sounds are linked together into the perceptual experience of words and continuous speech. The overall goal is to determine how the brain extracts linguistic elements from a complex acoustic speech signal towards better understanding and remediating human language disorders.
Electrochemical and Electrophysiological Study
CognitionMedically Intractable EpilepsyThis study will utilize computerized algorithms in combination with real-time intracranial neurophysiological and neurochemical recordings and microstimulation to measure cognitive and affective behavior in humans. Questionnaires or simple behavioral tasks (game-like tasks on a computer or an iPad) may also be given to additionally characterize subjects on related cognitive or affective components. Importantly, for the purposes of understanding the function of the human brain, neural activity can be recorded and probed (i.e. microstimulation) while subjects are performing the same computerized cognitive and affective tasks. These surgeries allow for the in vivo examination of human neurophysiology and are a rare opportunity for such research. In addition to computerized testing, the investigators plan to characterize subjects' behavior on related cognitive or affective components. Some neuropsychological questionnaires, many of which are administered for clinical reasons (listed below under study population), may also be given to patients and healthy control subjects. All patients undergoing epilepsy surgery (the population from which subjects will be selected) undergo a standard clinical neuropsychological battery to assess aspects of cognitive function. This is a regular aspect of their clinical assessment carried out prior to consideration for study inclusion. All participants are selected uniformly because they are undergoing surgery for subdural electrode implantation. No particular ethnic group or population is targeted by or excluded from the study. Those to be considered for inclusion in the proposed study performing more than 2 standard deviations below the mean on any aspect of cognitive functioning as determined by standard preoperative neuropsychological testing will be excluded from the study. No additional neuropsychological testing will be necessary as part of the study itself.
Epileptogenic Network Visualisation With Advanced MRI
Drug Resistant EpilepsyThe goal of this clinical trial is to improve non-invasive identification of epileptogenic networks in drug-resistant epileptic patient. The investigators aim to compare epileptogenic network identification with stereo-EEG (used as glod standard) with the identification of the same network using advanced MRI (rs-fMRI, microstructural analysis of white matter, ...). The main goals are to: Compare the accuracy of network identification. Analyse the effect of the MRI sequences on candidates selection and target identification. Participants will already have been selected for stereoEEG and will undergo a supplementary MRI (about 1h) with the additional MRI sequences. Follow-up MRI are scheduled for patient undergoing a second, therapeutic epileptic surgery.
Investigation of Blood-Brain-Barrier Breakdown Using Manganese Magnetic Resonance Imaging in Drug-Resistant...
EpilepsyBackground: - The blood-brain barrier separates the brain from the rest of the body. Epilepsy is a neurological disease that causes seizures. It can affect this barrier. Researchers think a contrast agent called mangafodipir might be better able to show areas of the brain that epilepsy affects. Objective: - To see if mangafodipir is well tolerated and safe. To see if it can show, on an MRI, areas of the brain that epilepsy affects. Eligibility: People ages 18-60 who: Have epilepsy not controlled by drugs Prior or concurrent enrollment in 18-N-0066 is required Design: Participants will be screened with: Medical history Physical exam Blood and urine tests Participants will have up to 6 visits in 1-3 months. Those with epilepsy will have an inpatient stay lasting 2-10 days. Visits may include: Video-EEG monitoring for participants with epilepsy An IV catheter put in place: a needle guides a thin plastic tube into an arm vein. Getting mangafodipir through the IV. 5 MRI scans over a 10-day period: a magnetic field and radio waves take pictures of the brain. Participants lie on a table that slides into a metal cylinder. They are in the cylinder for 45-90 minutes, lying still for up to 10 minutes at a time. The scanner makes loud knocking sounds. Participants will get earplugs. A final MRI at least 2 weeks after receiving mangafodipir. Gadolinium is given through an IV catheter....
Wearable Devices to Monitor Seizures in Autoimmune Epilepsy
Autoimmune EpilepsyHealthyThe purpose of this research is to search for reproducible changes in a wide range of physical signals, including heart rate, muscle tone and activity and EEG before and at the onset of seizures in patients with epilepsy.
Validation of an Italian Questionnaire of Adherence to the Ketogenic Diet
EpilepsyThe ketogenic diet (KD) represents an effective and safe non-drug treatment for drug-resistant epilepsy in pediatric and adult age based on normocaloric, hyperlipidic (80-90% of the daily energy), normoproteic and hypoglucidic dietary regimen. Adherence to treatment with KD is often difficult in the long term, for the patient and for caregivers, especially in adolescence. There are no tools in the literature other than monitoring ketonemia to measure adherence to the diet. A quality tool, validated by experts, on a large population, would allow for a more solid assessment of adherence to treatment, facilitating clinicians in the interpretation of efficacy results and in implementing an early intervention to adjust the therapy.
An Examination of Cognitive and Sensorimotor Processes in Patients With Epilepsy
EpilepsyThe overall goal of this project is to better understand the micro-physiology of human epilepsy and cognition using the intracranial electroencephalogram (iEEG), electrical brain stimulation, functional magnetic resonance imaging (fMRI), and histology.
The Neural Coding of Speech Across Human Languages
EpilepsyBrain Tumor2 moreThe overall goal of this study is to reveal the fundamental neural mechanisms that underlie comprehension across human spoken languages. An understanding of how speech is coded in the brain has significant implications for the development of new diagnostic and rehabilitative strategies for language disorders (e.g. aphasia, dyslexia, autism, et alia). The basic mechanisms underlying comprehension of spoken language are unknown. Researchers are only beginning to understand how the human brain extracts the most fundamental linguistic elements (consonants and vowels) from a complex and highly variable acoustic signal. Traditional theories have posited a 'universal' phonetic inventory shared by all humans, but this has been challenged by other newer theories that each language has its own unique and specialized code. An investigation of the cortical representation of speech sounds across languages can likely shed light on this fundamental question. Previous research has implicated the superior temporal cortex in the processing of speech sounds. Most of this work has been entirely carried out in English. The recording of neural activity directly from the cortical surface from individuals with different language experience is a promising approach since it can provide both high spatial and temporal resolution. This study will examine the mechanisms of phonetic encoding, by utilizing neurophysiological recordings obtained during neurosurgical procedures. High-density electrode arrays, advanced signal processing, and direct electrocortical stimulation will be utilized to unravel both local and population encoding of speech sounds in the lateral temporal cortex. This study will also examine the neural encoding of speech in patients who are monolingual and bilingual in Mandarin, Spanish, and English, the most common spoken languages worldwide, and feature important contrastive differences of pitch, formant, and temporal envelope. A cross-linguistic approach is critical for a true understanding of language, while also striving to achieve a broader approach of diversity and inclusion in neuroscience of language.