Atsushi Ishii
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View article: <scp>SCN1A</scp> gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications
<span>SCN1A</span> gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications Open
A large number of cases with Dravet syndrome (DS) has been attributed to SCN1A loss of function (LOF), whereas SCN1A gain‐of‐function (GOF) causes early infantile developmental and epileptic encephalopathy (EIDEE) and familial hemiplegic m…
View article: Acute E2/P4 loss compromises the biology and function of neurogenic niches during a vulnerable female aging period
Acute E2/P4 loss compromises the biology and function of neurogenic niches during a vulnerable female aging period Open
SUMMARY Effects of aging on neural stem progenitor cells (NSPCs) have been studied in males, but less is known in females. Here we comparatively assess female NSPC biology, both in the subventricular zone and hippocampal dentate gyrus nich…
View article: Candidate Anxiety‐Related Genes in the Hippocampus of Hatano Male Rats: Anxiolytic Action of Neuromedin U in the Hippocampus
Candidate Anxiety‐Related Genes in the Hippocampus of Hatano Male Rats: Anxiolytic Action of Neuromedin U in the Hippocampus Open
Identifying genes involved in anxiety is important to elucidate the mechanisms of anxiety disorders. Hatano high avoidance animals (HAA) and low avoidance animals (LAA) are inbred strains that are selected based on their performance in an …
View article: The 5-HT1F Receptor Agonist Lasmiditan improves Cognition and Ameliorates Associated Cortico-Hippocampal Pathology in Aging Parkinsonian Mice
The 5-HT1F Receptor Agonist Lasmiditan improves Cognition and Ameliorates Associated Cortico-Hippocampal Pathology in Aging Parkinsonian Mice Open
While the etiopathology of Parkinson’s disease (PD) is complex, mitochondrial dysfunction is established to have a central role. Thus, mitochondria have emerged as targets of therapeutic interventions aiming to slow or modify PD progressio…
View article: A descriptive study of junior residents’ encounters with patients presenting various signs, symptoms, and diseases during initial postgraduate general practice/family medicine training in Japan
A descriptive study of junior residents’ encounters with patients presenting various signs, symptoms, and diseases during initial postgraduate general practice/family medicine training in Japan Open
General practice/family medicine training provided the junior residents with the opportunity to experience a wide range of signs/symptoms and diseases/disorders.
View article: Impact of general practice/family medicine training on Japanese junior residents:reflective writing analysis using text mining
Impact of general practice/family medicine training on Japanese junior residents:reflective writing analysis using text mining Open
It was suggested that general practice/family medicine training greatly contributes to the acquisition of clinical abilities and deepens the learning of junior residents not only about patient care but also about family-oriented care.
View article: Impact of general practice / family medicine training on Japanese junior residents:a descriptive study
Impact of general practice / family medicine training on Japanese junior residents:a descriptive study Open
General practice / family medicine training may greatly contribute to the acquisition of various required clinical abilities in postgraduate training even in Japan.
View article: Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review
Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review Open
Syntaxin-binding protein1 (STXBP1) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and neuronal transmission, respectively. ST…
View article: Effects of Irrigation Water Sufficiency on Water Fee Collection Rate in Uganda’s Large-Scale Paddy Irrigation Schemes
Effects of Irrigation Water Sufficiency on Water Fee Collection Rate in Uganda’s Large-Scale Paddy Irrigation Schemes Open
Improving irrigation performance is crucial for increased agricultural productivity. As an indicator of performance, among other factors, improving the water Fees Collection Rate (FCR) is required, but FCR has remained low in most African …
View article: CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate Open
CUX2 gene encodes a transcription factor that controls neuronal proliferation, dendrite branching and synapse formation, locating at the epilepsy-associated chromosomal region 12q24 that we previously identified by a genome-wide associatio…
View article: CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate Open
CUX2 gene encodes a transcription factor that controls neuronal proliferation, dendrite branching and synapse formation, locating at the epilepsy-associated chromosomal region 12q24 that we previously identified by a genome-wide associatio…
View article: Neuroanatomical Considerations for Optimizing Thalamic Deep Brain Stimulation in Tourette Syndrome
Neuroanatomical Considerations for Optimizing Thalamic Deep Brain Stimulation in Tourette Syndrome Open
Background Deep brain stimulation (DBS) of the centromedian (CM) thalamic nucleus has reportedly been used to treat severe Tourette syndrome (TS) with promising outcomes; however, it remains unclear how DBS electrode position and stimulati…
View article: 10：遺伝子変異
10：遺伝子変異 Open
新生児期から小児期のてんかんは、外傷・周産期異常・脳血管異常・腫瘍や一部の代謝性疾患を除いては、遺伝子の異常による。中でも、稀な発達性てんかん性脳症の大部分は単一の遺伝子異常の影響が強い。てんかんの遺伝子研究は、連鎖解析を用いたポジショナルクローニング、アレイCGH、次世代シークエンサー（NGS）と技術の進歩と共に進歩した。NGSは、病因遺伝子の同定が困難だった孤発発症のてんかん性脳症（DEE）で著しい成果を生み出した。一方、NGSにより同定された遺伝子は、それ以前に同定さ…
View article: Characteristics of <i><scp>KCNQ</scp>2</i> variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy
Characteristics of <i><span>KCNQ</span>2</i> variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy Open
Objective Pathogenic variants of KCNQ 2 , which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy—B(F) NE )—or KCNQ 2 encephalopathy ( KCNQ 2 DEE ). We examined the characteristics of KCNQ 2 variants. Met…
View article: Heart rate variability in a patient with alternating hemiplegia
Heart rate variability in a patient with alternating hemiplegia Open
Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by repetitive episodes of transient hemiplegia. Although autonomic nervous system dysfunction is believed to be associated with AHC, there are no reports of heart r…
View article: Regional Resource Exploitation and Profit Sharing in Hydropower Generation
Regional Resource Exploitation and Profit Sharing in Hydropower Generation Open
Hydropower generation companies in Japan profit by using regional resources of river flows and topographical conditions in hilly/mountainous areas, which have economic development and population settlement disadvantages. The residents of t…
View article: Effect of Farmers’ Water Management on Water Temperature Changes in Paddy Area with Independent Irrigation and Drainage Canal Settings
Effect of Farmers’ Water Management on Water Temperature Changes in Paddy Area with Independent Irrigation and Drainage Canal Settings Open
In this study, we continuously observed water temperatures in the main irrigation canal and the main branch and farm drains of a paddy area with independent irrigation and drainage canals. We focused on the flow-down pathway that changes w…
View article: The Realities of Applications for Water Rights from Hydropower Generation in the Kinu River and the Evaluation of the Tochigi Prefectural Government during the Meiji Era
The Realities of Applications for Water Rights from Hydropower Generation in the Kinu River and the Evaluation of the Tochigi Prefectural Government during the Meiji Era Open
This paper aims to clarify the realities of applications for water rights from hydropower generation in the Kinu River in the Meiji Era, when Japan’s power generation industry began. Through analyses of related documents, including confide…
View article: Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome Open
Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as a…
View article: Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype
Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype Open
The effects of age and genotype were examined, with regard to the severity of aberrant, autistic, and food-related behaviors in Prader-Willi syndrome (PWS), with an emphasis on the contrast between adolescents and young adults. The Aberran…
View article: Characteristics of the River Flow Regime in Korea from the Perspective of Water Availability for Paddy Field Irrigation
Characteristics of the River Flow Regime in Korea from the Perspective of Water Availability for Paddy Field Irrigation Open
一流域内で水田として開発できる面積は水源となる河川の流量特性によって強く制約される．本報は，日本とよく似た温帯モンスーン気候で水田水稲作を行っている韓国を対象に河川の流量特性を検討し，日本の河川と比較分 析を行った．分析には韓国の主要河川14箇所の10～30年間の日流量データを用いた．その結果，次のことを示した．1）年非超過確率1/10で評価した韓国の河川は水田灌漑期間の渇水時比流量が0.1～0.2 m3/s/100 km2程度で，日本 の約1/10と極めて小さい．2）その…
View article: Clinical implications of <i><scp>SCN</scp>1A</i> missense and truncation variants in a large Japanese cohort with Dravet syndrome
Clinical implications of <i><span>SCN</span>1A</i> missense and truncation variants in a large Japanese cohort with Dravet syndrome Open
Summary Objective Two major classes of SCN 1A variants are associated with Dravet syndrome ( DS ): those that result in haploinsufficiency (truncating) and those that result in an amino acid substitution (missense). The aim of this retrosp…
View article: Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness
Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness Open
Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by childhood-onset epilepsy syndrome. It involves febrile seizures and a variety of afebrile epileptic seizure types within the same pedigree with autosomal-dominant inhe…
View article: Progressive Brain Atrophy in Alternating Hemiplegia of Childhood
Progressive Brain Atrophy in Alternating Hemiplegia of Childhood Open
Background Alternating hemiplegia of childhood ( AHC ) is a rare neurodevelopmental disorder that includes involuntary movements, paroxysmal symptoms, and various severities of nonparoxysmal symptoms. Objective To investigate the occurrenc…
View article: <i>SCN8A</i> encephalopathy: Research progress and prospects
<i>SCN8A</i> encephalopathy: Research progress and prospects Open
Summary On April 21, 2015, the first SCN 8A Encephalopathy Research Group convened in Washington, DC , to assess current research into clinical and pathogenic features of the disorder and prepare an agenda for future research collaboration…