A5015314583- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Functional Brain Connectivity Studies
- Metabolism and Genetic Disorders
- Blood properties and coagulation
- EEG and Brain-Computer Interfaces
- Advanced MRI Techniques and Applications
- Neonatal and fetal brain pathology
- Autoimmune Neurological Disorders and Treatments
- Adipokines, Inflammation, and Metabolic Diseases
- Cystic Fibrosis Research Advances
- Peripheral Neuropathies and Disorders
- Cancer, Stress, Anesthesia, and Immune Response
- Infant Development and Preterm Care
- Prostate Cancer Diagnosis and Treatment
- Head and Neck Anomalies
- Cardiac Arrhythmias and Treatments
- MicroRNA in disease regulation
- Eicosanoids and Hypertension Pharmacology
- Peptidase Inhibition and Analysis
- Sesame and Sesamin Research
- Blood disorders and treatments
- Synthesis and Catalytic Reactions
Montreal Neurological Institute and Hospital
2022-2024
Jikei University School of Medicine
1992-2024
McGill University
2023
Saitama Children's Medical Center
2017-2020
Health and Human Development (2HD) Research Network
2017-2019
Hôpital Femme Mère Enfant
2018
Hospices Civils de Lyon
2018
Centre de Recherche en Neurosciences de Lyon
2018
ABSTRACT Mutation of the gene encoding ubiquitin‐like modifier‐activating enzyme 5 ( UBA5 ) causes autosomal recessive early‐onset epileptic encephalopathy. acts as an E1‐activating in ubiquitin‐fold modifier 1 pathway, which is important for unfolded protein elimination and regulation apoptosis, has been linked to human diseases. We identified biallelic mutations a Japanese boy with intractable West syndrome, profound failure thrive, severe cerebral cerebellar atrophy. The presented spasms...
Intravenous immunoglobulin (IVIG) therapy is used in the treatment of various diseases, and IVIG-related adverse effects (IVIG-AEs) vary from mild to severe. However, mechanisms underlying IVIG-AEs potential predictive factors are not clear. This study investigated whether certain can be predicted before IVIG administration.This retrospective cohort at Division Neurology, Saitama Children's Medical Center included patients enrolled 2008 2018 who were < 18 years old received for first time....
We retrospectively investigated whether perampanel (PER) could serve as an alternative for treating drug-resistant seizures in lissencephaly. the following data: age at onset of epilepsy, start PER, etiology, brain MRI findings, seizure type, frequency, adverse effects, and concomitant anti-epileptic drugs. There were 5 patients with lissencephaly, including 2 Miller–Dieker syndrome. Four out five exhibited ≥ 50% reduction. Myoclonic disappeared 1 patient. PER was effective adjunctive...
Abstract Background Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system; neurological damage mainly attributed to overstimulation N-methyl-D-aspartate receptor. Case The patient presented with nonketotic and experienced frequent spasms focal seizures, which were resistant vigabatrin, adrenocorticotropic hormone therapy, combined dextromethorphan sodium benzoate treatments. By 9 months age, perampanel...
Abstract Simultaneous electroencephalography–functional MRI (EEG‐fMRI) is a unique and noninvasive method for epilepsy presurgical evaluation. When selecting voxels by null‐hypothesis tests, the conventional analysis may overestimate fMRI response amplitudes related to interictal epileptic discharges (IEDs), especially when IEDs are rare. We aimed estimate represented blood oxygen level dependent (BOLD) percentage changes using hierarchical model. It involves local distributed hemodynamic...
This study aimed to investigate the general presentation of epileptic spasms without hypsarrhythmia (ESwoH) and retrospectively determine whether there are differences in treatment effects related ACTH therapy, long-term seizure outcome, evolution EEG features according pre-treatment patterns. According pattern background activity, we divided our cohort into two groups: Group 1: normal activity or with localized intermittent slow waves; 2: waves appearing generalized more lobes. Subjects...
Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It caused mutations AAAS gene, which located on chromosome 12q13, encoding WD-repeat protein ALADIN (alacrima-achalasia-adrenal insufficiency neurologic disorder) (1). Herein, we present case two-year-old girl with genetically confirmed diagnosis resulting from novel...
A 3-year-old boy with normal development presented acute cerebellitis at one year and 10 months of age. His truncal ataxia resolved without treatment. He experienced a relapse atonic seizures 2 years month Five later, he myoclonic seizures. By 3 age, the had become severe, frequency increased. Compared to controls, we found higher levels anti-C-terminal GluN2B anti-N terminal GluD2 antibodies in serum, anti-C cerebrospinal fluid (CSF). cell-based assay revealed presence anti-NMDA-type...
Abstract Objective We aimed to evaluate the contribution of simultaneous recording electroencephalography–functional magnetic resonance imaging (EEG‐fMRI) in diagnosis epilepsy syndrome, localization epileptogenic zone (EZ), and decision‐making regarding surgical treatment. Methods performed a retrospective study patients with focal who underwent EEG‐fMRI. Two evaluators assessed presumed focus, candidacy defined confidence levels. They these clinical characteristics first without EEG‐fMRI...