A5002059637- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Neonatal and fetal brain pathology
- Synthesis and Reactions of Organic Compounds
- EEG and Brain-Computer Interfaces
- Amino Acid Enzymes and Metabolism
- RNA Research and Splicing
- RNA modifications and cancer
- Fetal and Pediatric Neurological Disorders
- Epilepsy research and treatment
- Gaze Tracking and Assistive Technology
- Genomics and Rare Diseases
- Folate and B Vitamins Research
- Neuroscience and Music Perception
- Blind Source Separation Techniques
- Pharmacological Effects and Toxicity Studies
- Synthesis and biological activity
- Diet, Metabolism, and Disease
- Endoplasmic Reticulum Stress and Disease
- Chromatin Remodeling and Cancer
- Cellular transport and secretion
- Genomic variations and chromosomal abnormalities
- Infant Development and Preterm Care
National Hospital Organization
2017-2023
Kagoshima City Hospital
2023
Kyushu Hospital
2014-2021
Yanagawa Rehabilitation Hospital
2013-2019
International University of Health and Welfare
2014-2017
Fukuoka University
2011
Kyushu University
2006
De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven de heterozygous mutations, which were found our comprehensive genetic analysis (target capture or whole-exome sequencing) for early onset encephalopathies (EOEEs).A total of 163 EOEEs without known genes, including 6 malignant migrating partial seizures infancy (MMPSI), and 60 unclassified EOEEs, analyzed by target (28 samples) sequencing (135 samples).We identified 7 patients:...
<h3>BACKGROUND AND PURPOSE:</h3> X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the intellectual disability syndromes caused by mutations <i>ATRX</i> gene and characterized male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital skeletal abnormalities, autistic peculiar behavior. More than 200 patients world, including >70 Japanese patients, have been diagnosed with ATR-X...
In order to clarify the correlation between morphological characteristics and clinical features in epilepsy patients with unilateral hippocampal abnormality, morphometric magnetic resonance imaging studies were performed.We selected a series of childhood-onset abnormality. The volume formation anterior temporal lobe measured, morphology was compared their features. classified into three groups: group I, diffuse severe reduction abnormal signal; II, focal atrophy or signal formation; III, no...
Sever motor and intellectual disabilities (SMID) patients can't express their feelings with languages. That's why it is important to measure analyze brain activity. In this study, we tried investigate the response hearing subject's own name of healthy people one patient SMID by analyzing EEG. The results time frequency analysis showed inter trial coherence a at theta oscillation was higher in SON specifically. On other hand, that subjects not so different control condition. These might...
The level of residual cognitive function in patients with early brain injury is a key factor limiting rehabilitation and the quality life. Although understanding necessary for appropriate rehabilitation, extent its effects on improvement remains unknown. This study evaluated severe motor intellectual disabilities after injuries due to cerebral hemorrhage or periventricular leukomalacia. We focused neural responses hearing subject's own name (SON). According previous studies, differences...
脳梁離断術はてんかん性スパズム、強直発作、脱力発作などの転倒する発作で最も有効とされる。今回、非定型欠神発作重積に脳梁離断術が有効だった1例を経験したので報告する。症例は6歳女児。生後Down症候群と診断された。8カ月時にWest症候群を発症した。5歳時から強直発作、ミオクロニー発作、非定型欠神発作などの多彩な発作を認めるようになり、Lennox-Gastaut syndrome spectrumと診断した。6歳0カ月時には最大で1日100回以上の非定型欠神発作が出現して、脳波検査では発作時、発作間欠時脳波ともに全般性変化を呈した。難治に経過し、薬剤治療による欠神発作重積の抑制は困難と判断して6歳1カ月時に脳梁離断術を行った。手術直後から各種発作は消失した。術後の脳波では全般性棘徐波が右前頭部に局在化した。脳梁を介した神経興奮の拡がりが脳梁離断術によって抑制されたことによって、全般発作である非定型欠神発作が抑えられた可能性を考えた。本症例の経験から、特に欠神発作重積が薬剤抵抗性で退行を呈するなどの緊急性を要する症例では、脳梁離断術の適応を積極的に検討すべきと考えた。
シルビウス裂周囲の大脳皮質に異常をきたす脳発達障害について, 神経病理学的面から述べ, 先天性および後天性疾患に見られる可塑性について考察した. 先天性の大脳皮質形成異常では, 頭部画像で早期診断され, 遺伝子変異が見出されるが, 病巣の局在と神経ネットワークの再構築によって, 言語機能への影響は変わり多彩である. 脳機能画像でも, 神経細胞レベルでも, 脳障害に対する代償機能や可塑性が見出され, 療育やリハビリテーションへの活用法の進歩が期待される. ダウン症候群脳の発達と加齢の観察から, 発達遅滞や早発認知症が見られるものの, 脳には長期にわたる代償や可塑性が見られ, 継続的介入が大切であると考えられる.