A5046996814- Epilepsy research and treatment
- Infectious Encephalopathies and Encephalitis
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Viral Infections and Immunology Research
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Neurogenetic and Muscular Disorders Research
- Kawasaki Disease and Coronary Complications
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Pneumonia and Respiratory Infections
- Respiratory viral infections research
- Genomic variations and chromosomal abnormalities
- Ion channel regulation and function
- Bacterial Infections and Vaccines
- Genetic Syndromes and Imprinting
- Williams Syndrome Research
- Neonatal and fetal brain pathology
- Polyomavirus and related diseases
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Growth Hormone and Insulin-like Growth Factors
- Congenital Anomalies and Fetal Surgery
- Ion Transport and Channel Regulation
- Neurological Complications and Syndromes
Aichi Medical University
2016-2025
Aichi Developmental Disability Center
2011-2020
Aichi Human Service Center
2013-2017
Aichi Medical University Hospital
2016
Fukuoka University
2008-2015
Nagoya University
2006-2015
Toyohashi University of Technology
2011
Tosei General Hospital
2006
Genetic abnormalities of the gene encoding alpha1 subunit sodium channel (SCN1A), which can be detected by direct sequencing, are present in more than 60% patients with severe myoclonic epilepsy infancy (SMEI) or its borderline phenotype (SMEB). Microchromosomal deletions have been recently reported as additional causes SMEI. This study examines whether such microdeletions associated SMEI well SMEB.We recruited (n = 35) and SMEB 34), who were confirmed previously to no mutations SCN1A...
Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in gene encoding the alpha isoform of calcineurin catalytic subunit (PPP3CA). Notably, were observed different functional domains: addition to three domain mutations, two missense found auto-inhibitory (AI) domain. One additional frameshift insertion caused premature termination was also identified. Detailed clinical evaluation...
Objective Reversible myelin vacuolization is associated with variable conditions including mild encephalitis/encephalopathy a reversible splenial lesion (MERS), which characterized by mildly impaired consciousness and transient lesion. Familial and/or recurrent cases clinical diagnosis of MERS suggest the presence genetic factors. Methods We examined family in proband presented history encephalopathy extensive but cerebral neurological symptoms similar to those spanning 3 generations....
Paroxysmal kinesigenic dyskinesia is a rare movement disorder that typically has genetic basis, with PRRT2 being the primary causative gene. However, TMEM151A mutations have recently emerged as factors. Here, we report cases of two Japanese siblings diagnosed paroxysmal caused by novel heterozygous frameshift variant (c.760_761insT). Case 1 was 17-year-old male who had experienced involuntary movements triggered sudden actions since age 12 years. Carbamazepine alleviated symptoms but side...
Mitigation measures implemented during the coronavirus disease 2019 (COVID-19) pandemic remarkably reduced incidence of infectious diseases among children. However, a re-emergence respiratory syncytial virus (RSV) infection was observed in 2021 Japan. We compared clinical characteristics hospitalized patients with RSV before and COVID-19.We retrospectively enrolled children aged <6 years who were 18 hospitals their (January to April 2020, 1675 patients) COVID-19 (September 2020 December...
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)...
We report a 2-year-old girl who had repeated febrile or afebrile seizures since infancy. Prolonged left/right hemiconvulsions and myoclonus of the eyelids/extremities with generalization to tonic-clonic seizures, were refractory antiepileptic agents. At age 1 year 4 months, she contracted rotavirus infection, developed status epilepticus persistent right hemiclonic seizures. Left unilateral brain edema subsequent emergence cortical laminar necrosis white matter lesions, progressive atrophy...
Summary: Purpose: The aim of this study was to investigate the long‐term outcome children with benign partial epilepsy in infancy (BPEI). Methods: A telephone‐interview survey using a structured questionnaire conducted patients who were diagnosed as having possible BPEI at age 2 years and 8 or older time survey. data from 39 48 available. median 11.3 years; 18 boys 21 girls included. Results: Three had recurrence unprovoked seizure beyond years. Four cognitive problems (mild mental...
Evidence indicates that individuals with Williams syndrome (WS) exhibit atypical attentional characteristics when viewing faces. However, the dynamics of visual attention captured by faces remain unclear, especially explicit forces are present. To clarify this, we introduced a search paradigm and assessed how relative strength face control changes as progresses.Participants (WS controls) searched for target (butterfly) within an array distractors, which sometimes contained upright face. We...