A5016211338- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- EEG and Brain-Computer Interfaces
- Tuberous Sclerosis Complex Research
- Infectious Encephalopathies and Encephalitis
- Neuroscience and Neuropharmacology Research
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Functional Brain Connectivity Studies
- Advanced Neuroimaging Techniques and Applications
- Cerebrospinal fluid and hydrocephalus
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Neurological disorders and treatments
- Bacterial Infections and Vaccines
- Traumatic Brain Injury and Neurovascular Disturbances
- Vagus Nerve Stimulation Research
- Genomic variations and chromosomal abnormalities
- Infant Development and Preterm Care
- Genomics and Rare Diseases
- Family and Disability Support Research
- Head and Neck Surgical Oncology
- Vascular Malformations Diagnosis and Treatment
- Cardiovascular Syncope and Autonomic Disorders
- Neurological and metabolic disorders
Tottori University
2006-2025
Seirei Hamamatsu General Hospital
2015-2024
Tottori University Hospital
2021-2024
Institute of Neurological Sciences
2024
Yokohama City University
2023
Hospices Civils de Lyon
2022
Hôpital Femme Mère Enfant
2022
Winthrop-University Hospital
2019
Hospital for Sick Children
2013-2017
University of Toronto
2017
<b>Background: </b> Patients with encephalopathy heralded by a prolonged seizure as the initial symptom often have abnormal subcortical white matter on diffusion-weighted MRI (DWI). <b>Objective: To determine if these patients share other common features. <b>Methods: and followed identification of were collected retrospectively. Their clinical, laboratory, radiologic data reviewed. <b>Results: Seventeen identified, ages 10 months to 4 years. All had febrile (longer than 1 hour in 12...
Summary Objective Multiple tubers in patients with tuberous sclerosis complex ( TSC ) often are responsible for drug‐resistant epilepsy. The complexity of the epileptic network formed by multiple complicates localization epileptogenic zone that is needed to design a surgical treatment strategy. High frequency oscillations HFO s) on intracranial video‐electroencephalography IVEEG may be valuable surrogate marker zone. purpose this study was test hypothesis high occurrence rate OR interictal s...
Abstract Although there are many known Mendelian genes linked to epileptic or developmental and encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique an individual significantly overrepresented in EE/DEE, both the other non-EE/DEE genes. Importantly, enrichment dURVs significant, even subset with diagnostic ( P =...
Genetic mutations of the cyclin-dependent kinase-like 5 gene (CDKL5) have been reported in patients with epileptic encephalopathy, which is characterized by intractable seizures and severe-to-profound developmental delay. We investigated clinical relevance CDKL5 alterations both genders.A total 125 encephalopathy were examined for genomic copy number aberrations, 119 no such aberrations further mutations. Five Rett syndrome, who did not show methyl CpG-binding protein 2 (MECP2) mutations,...
Summary Purpose: The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features syndrome. Methods: Through mailing list Annual Zao Conference on Pediatric Neurology, we collected 15 patients clinically diagnosed syndrome, who had encephalopathy, defined as a condition decreased consciousness or without other neurologic symptoms, such seizures, lasting for >24 h association infectious symptoms. Key Findings: There...
ABSTRACT Aims . Several recent studies have reported potassium sodium‐activated channel subfamily T member 1 ( KCNT1 ) mutations in epilepsy patients on quinidine therapy. The efficacy and safety of for treatment, however, remains controversial. Methods We herein report the cases four with treated quinidine. Results A reduction seizures more than 50% after treatment was observed one patient infancy migrating focal (EIMFS), whereas two EIMFS did not achieve apparent seizure reduction....
For patients with infantile epileptic spasms syndrome (IESS) who have achieved remission of (ES), indicators how well the electroencephalographic (EEG) state should be maintained during follow-up are not available. We hypothesized that time course Burden Amplitudes and Epileptiform Discharges (BASED) score after ES is associated relapse. This study aimed to investigate association between relapse BASED scores at initial subsequent period. collected clinical digital EEG data four hospitals...
BCL11A encodes a zinc finger protein that is highly expressed in hematopoietic tissues and the brain, known to function as transcriptional repressor of fetal hemoglobin (HbF). Recently, de novo variants have been reported individuals with intellectual disability syndrome without epilepsy. In this study, we performed whole-exome sequencing 302 patients epileptic encephalopathies (EEs), identified 2 novel variants, c.577delC (p.His193Metfs*3) c.2351A>C (p.Lys784Thr). Both shared major physical...
Vitamin B6-dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1,PNPO, and others. Recently, biallelic PLPBP, formerly known PROSC, were identified a novel cause of vitamin epilepsies. Our objective was to further delineate the phenotype PLPBP mutation.We 4 unrelated patients harboring total including 3 variants, cohort 700 with developmental epileptic encephalopathies. Clinical information each case collected.Each patient had different clinical...
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity specificity, reproducibility, precision. However, operational optimization of such for a better performance has not fully addressed. ES 1199 samples including 763 patients with different disease profiles was performed. were analyzed CNVs by both the eXome Hidden Markov Model (XHMM) modified Nord's method. To efficiently rare CNVs, we aimed decrease...
Abstract Objective Individuals with Dravet syndrome (DS) exhibit progressive gait disturbance. No quantitative studies have been conducted to evaluate the effectiveness of medication for Therefore, aim this study was levodopa pathological in people DS using three‐dimensional analysis (3DGA). Methods Nine individuals DS, ages 6–20 years, participated a crossover and were randomly assigned precedence or no group. Levodopa/carbidopa hydrate prescribed at dose 5 mg/kg/day (body weight <60 kg)...
Introduction: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder. Angiofibromas (AF), fibrous plaques, and hypopigmented macules are the major skin findings in TSC. Topical sirolimus reduces volume redness of AF other findings. However, efficacy early intervention long-term treatment remains to be clarified. We investigated gel for children with Methods: recruited nine (five boys; four girls) TSC AF. used 0.2% over 6 months. reviewed each patient's medical records...
Abstract Focal cortical dysplasia is the most common malformation during development, sometimes excised by epilepsy surgery and often caused somatic variants of mTOR pathway genes. In this study, we performed a genetic analysis epileptogenic brain malformed lesions from 64 patients with focal dysplasia, hemimegalencephy, tumors, or hippocampal sclerosis. Targeted sequencing, whole-exome single nucleotide polymorphism microarray detected four germline 35 variants, comprising three copy number...