A5021162866- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Ion channel regulation and function
- Ion Transport and Channel Regulation
- Congenital heart defects research
- Kidney Stones and Urolithiasis Treatments
- Pediatric Urology and Nephrology Studies
- Botulinum Toxin and Related Neurological Disorders
- Genetic and Kidney Cyst Diseases
- Neurological disorders and treatments
- Cellular transport and secretion
- Amino Acid Enzymes and Metabolism
- Cerebrospinal fluid and hydrocephalus
- Genetic Neurodegenerative Diseases
- Neurological and metabolic disorders
- RNA regulation and disease
- Infectious Encephalopathies and Encephalitis
- Muscle Physiology and Disorders
National Center of Neurology and Psychiatry
2016-2024
Toho University
2024
Toho University Omori Medical Center
2024
Dokkyo Medical University
2016
National Clinical Research
2016
Dokkyo Medical University Saitama Medical Center
2016
Pediatric epilepsy surgery is known to be effective, but early in infancy not well characterized. Extensive cortical dysplasia, such as hemimegalencephaly, can cause refractory shortly after birth, and surgical intervention indicated. However, the complication rate of pediatric significant. In this study, authors assessed risk-benefit balance relates developmental outcomes.
Cognitive risk associated with insular cortex resection is not well understood. The authors reviewed cognitive and developmental outcomes in pediatric patients who underwent of the epileptogenic zone involving insula.
A heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 have been previously described. Here we report two cases infantile‐onset cerebellar ataxia, due to different variants. Both patients showed slowly progressive ataxia without paroxysmal or episodic symptoms. Brain magnetic resonance imaging revealed mild cortical atrophy both patients. Whole exome sequencing a de novo heterozygous variant One patient had the c.460A>G (p.Met154Val) variant, while other carried...
<h3>BACKGROUND AND PURPOSE:</h3> CNS lesions of tuberous sclerosis complex are diagnosed mainly by T2WI, FLAIR, and sometimes T1WI with magnetization transfer contrast. The usefulness chemical shift selective images was recently reported in focal cortical dysplasia type IIb, which has histopathologic imaging features similar to those complex. We investigated the detecting <h3>MATERIALS METHODS:</h3> retrospectively reviewed 25 consecutive patients (mean age, 11.9 [SD, 8.9] years; 14 males)...
Although the treatment strategy for febrile infection-related epilepsy syndrome (FIRES) is improving, current research focuses on acute management. Evidence management of chronic phase limited. We present case a 19-year-old woman with FIRES who showed excellent response to ketogenic diet (KD) administered in phase. At age four years, she presented new-onset super-refractory status epilepticus after episode. She was diagnosed and had profound motor cognitive deterioration drug-resistant...
A rosette‐forming glioneuronal tumor (RGNT) was initially reported as an infratentorial that comprised both small neurocytic rosettes and astrocytic components. However, a few studies have supratentorial RGNTs arising in the cerebral hemispheres. Here, we report unusual case involving 9‐year‐old boy with RGNT who presented intractable epilepsy behavioral changes. Brain MRI revealed well‐circumscribed space‐occupying lesion septae right inferomedial parietal lobe. Electroencephalography...
Epileptic encephalopathy with electrical status epilepticus during sleep (ESES) is often refractory to medical treatment and leads poor cognitive outcomes. Corpus callosotomy may be an effective option for drug-resistant ESES no focal etiology. We retrospectively identified three patients who underwent corpus in our institution. Electroencephalography (EEG) findings functions were evaluated before surgery, at 3 months, 6 1 year, 2 years after surgery. Age surgery was 10 7 9 8 4 respectively....
Recessive mutations in TK2 cause a severe mitochondrial DNA depletion syndrome (MDS),(1) characterized by myopathy from early infancy. Recent reports have suggested wider clinical spectrum including encephalomyopathic form.(1,2) We report patient with infantile-onset fatal encephalomyopathy presenting extreme muscle fiber immaturity.
Abstract ATP1A2 encodes a subunit of sodium/potassium‐transporting adenosine triphosphatase (Na + /K ‐ATPase). Heterozygous pathogenic variants cause familial hemiplegic migraine, alternating hemiplegia childhood, and developmental epileptic encephalopathy. Biallelic loss‐of‐function in lead to fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, dysmorphic facies, resulting death. Here, we describe patient with compound heterozygous consisting missense nonsense variants....
ABSTRACT Ictal clinical semiology indicates where the patient's seizure arises from and how it progresses. A description of a focal sensory may support surgical decision even when MRI PET abnormalities are absent. deafness is auditory characterized by suppression hearing, presumably originating cortex in temporal lobe. However, precise localization has not been confirmed with cases. We present case which region ictal arose was intracranial electroencephalography, successful epilepsy surgery...
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14q12 deletion syndrome is characterized by hypotonia, postnatal microcephaly, intellectual disability, epilepsy, involuntary movements, and loss of corpus callosum. Reported cases described only the childhood period, resulting in scarcity information on its long-term clinical course up to adulthood. We herein present a 40-year-old man with deletion. He has never acquired head control speech bedridden spastic quadriplegia, joint contractures, scoliosis, chorea. During first few years,...
This study aimed to investigate the clinical characteristics of pediatric-onset dystonia in Japan, addressing diagnostic challenges arising from symptom variations and etiological diversity.
To investigate the longitudinal incidence of kidney/urinary stones in patients with severe motor and intellectual disabilities explore health burden events stone formation.
OBJECTIVE Hemispherotomy is an effective treatment for intractable hemispheric epilepsy; however, hydrocephalus remains a common complication of the procedure. The causes following hemispherotomy have not been fully elucidated; therefore, purpose this study was to identify risk factors associated with condition. METHODS authors investigated records all patients aged < 18 years who underwent at their institution between 2003 and 2020 were monitored least 1 year after To hydrocephalus,...
Patients with generalized epilepsy who had lateralized EEG abnormalities after corpus callosotomy (CC) occasionally undergo subsequent surgeries to control intractable epilepsy.This study evaluated retrospectively the combination of multiscale entropy (MSE) and FDG-PET for identifying lateralization epileptogenic zone CC.This included 14 patients pharmacoresistant underwent curative surgery CC. Interictal scalp obtained CC were investigated determine (1) whether MSE calculated from findings...
Syntaxin-binding protein1 (STXBP1) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators secretory and synaptic vesicle fusion machinery underlying hormonal neuronal transmission, respectively. STXBP1 pathogenic variants are associated with multiple neurological disorders. Herein, we present case Japanese girl mutation in gene, who was born at 40 weeks without neonatal asphyxia. At 15 days old, she developed epilepsy generalized seizures. Around 88 presented...