Faculty Information - Nagata Satoru

（Last updated : 2024-11-11 11:56:16）

Nagata Satoru
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position Professor and Division head

■ Books

Chapter contribution　

Proliferation without nuclei of Mitochondrial cells, 東京女子医科大学総合研究所　紀要
−2012年度報告書ー 2013/11/30

■ Published papers

1.	Original article	Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome 2024/04/24
2.	Original article	Novel Pathogenicity of Secretory Proteins from Acinetobacter Radioresistens in Experimental Models 2024/03
3.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
4.	Case report	Pain Alleviation With Enzyme Replacement Therapy in Childhood Female Fabry Disease: A Case Report 2023/04/25
5.	Original article	Cross-Reactivity of Antibodies in Intravenous Immunoglobulin Preparation for Protection against SARS-CoV-2 2023/02/13
6.	Original article	A Cross-Sectional Observational Study of developmental Coordination Disorders in the School-Age Very Low Birth Weight Children 2022/12/20
7.	Original article	T Cell Immunological Signatures of Peripheral Blood Mononuclear Cells in Hen's Egg Allergic Children 2022/12/20
8.	Case report	Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis 2022/12/05
9.	Original article	Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review 2022/09
10.	Original article	Laminin-221-derived recombinant fragment facilitates isolation of cultured skeletal myoblasts 2022/05
11.	Case report	GNAO1-Related Disorder in a Patient with Psychomotor Developmental Delay and Hypotonia 2022/04/25
12.	Case report	A Case Angelman Syndrome Who Suffered Hemiconvulsion-Hemiplegia-Epilepsy Syndrome 2022/02/25
13.	Original article	Psychogenic seizures in a child with infantile convulsions and choreoathetosis 2022
14.	Original article	Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 2021/12/20
15.	Original article	HECW2-related disorder in four Japanese patients 2021/10
16.	Original article	Ictal vocalizations are relatively common in myoclonic-atonic seizures associated with Doose syndrome: an audio-video-polygraphic analysis. 2021/10
17.	Case report	Psychogenic seizures in a child with infantile convulsions and choreoathetosis 2021/09/07
18.	Original article	Morphometric analysis of spike-wave complexes (SWCs) causing myoclonic seizures in children with idiopathic myoclonic epilepsies - A positive SWC component correlates with myoclonic intensity. 2021/08
19.	Original article	Transition from pediatric to adult care in a Japanese cohort of childhood-onset epilepsy: prevalence of epileptic syndromes and complexity in the transition. 2021/05
20.	Case report	Low-dose phenobarbital for epilepsy with myoclonic absences: A case report 2021/03/23
21.	Case report	Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency 2021/03/23
22.	Case report	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting 2021/03/06
23.	Case report	Valproate-Induced Mild Hypofibrinogenemia with Petechiae in a Case of Epilepsy with Myoclonic-Atonic Seizures 2020/12/01
24.	Original article	Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern 2020/12
25.	Case report	A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS) 2020/08/01
26.	Review article	A short form of gross motor function measure for Fukuyama congenital muscular dystrophy 2020/05
27.	Original article	A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. 2019/09
28.	Case report	Compound heterozygous ALDH7A1 mutation causes the hemi-allelic expression in a patient with pyridoxine-dependent epilepsy 2019/09
29.	Original article	Infliximab for very early-onset inflammatory bowel disease: A tertiary center experience in Japan. 2019/08
30.	Case report	Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease. 2019/07
31.	Review article	Causes of Kawasaki Disease-From Past to Present. Front Pediatr. 2019 Feb 5;7:18. doi: 10.3389/fped.2019.00018. eCollection 2019. 　英文総説 2019/02
32.	Original article	Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
33.	Case report	A novel PAFAH1B1 splicing variant identified in a patient with classical lissencephaly 2019
34.	Case report	Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome 2018/12
35.	Case report	Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG 2018/11
36.	Original article	Characteristic findings of skeletal muscle MRI in caveolinopathies. 2018/10
37.	Case report	An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU 2018/09
38.	Original article	Questionnaire survey on the current status of ketogenic diet therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) in Japan. 2018/05
39.	Original article	Two cases of chidhood narcolepsy mimicking epileptic seizures in video-EEG/EMG 2018/05
40.	Other	Evolution of gut Bifidobacterium population in healthy Japanese infants over the first three years of life: a quantitative assessment. 2017/08
41.	Case report	Systemic lupus erythematosus associated with RASopathy 2017/07
42.	Case report	A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria 2017/05
43.	Case report	Immunosuppressive medication is not associated with surgical site infection after surgery for intractable ulcerative colitis in children. 2017/05
44.	Original article	Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
45.	Case report	Childhood-onset anti-Ku antibody-positive generalized morphea with polymyositis: A Japanese case study 2015
46.	Other	Platelet Mitochondrial evaluation during Cytochrome and Dichloroacetate Treatments of MELAS 2014/11/30
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■ Academic conference presentation

1.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait 2024/10/12
2.	A rare de novo CHD1 variant in a patient with Rett-like neurodevelopmental disorder 2024/10/10
3.	A 2023 survey of COVID-19 infections and vaccinations in children with Dravet syndrome and infantile epileptic spasms syndrome 2024/09/14
4.	Study of upper limb function using Bioelectrical impedance analysis in Fukuyama congenital muscular dystrophy 2024/06/01
5.	Effect of treatment with miglustat ovar 10 years in a patient with late infantile onset Niemann-Pick diasease type C 2024/05/30
6.	Survey of COVID-19-affected neuromuscular disease patients in Japan 2024/05/30
7.	The key points to differentiate situation-related seizures from epileptic seizures inGlut1 deficiency syndrome 2024/05/30
8.	The neurodevelopmental courses and disorders at the school age in the very low birth weight infants 2024/05/30
9.	A phase 3, open-label, study to evaluate eculizumab in adolescents with refractory generalized myasthenia gravis 2024/04/20
10.	Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. 2024/03/15
11.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2023/10/14
12.	Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) 2023/10/06
13.	Sleep disorders in Fukuyama congenital muscular distrophy 2023/05/27
14.	Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) 2023/05/27
15.	A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance 2023/05/26
16.	A nationwide survey of nursery schooling and parental employment in children with epilepsy and febrile seizures 2023/05/26
17.	A survey of COVID-19 infections and vaccinations in children with Dravet syndrome and West syndrome 2023/05/26
18.	Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease 2023/05/26
19.	Potocki-Lupski Syndrome Family Association Support 2023/05/26
20.	Two cases of microdeletion of 3p14 containing MAGl1 2023/05/26
21.	A boy with spondylodiscitis complicated with epidural abscess induced by exercise 2023/04/16
22.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy 2023/04/16
23.	Two infantile patients with pseudohypoaldosteronism assoiated with congenital anomalies of the kidney and urinary tract 2023/04/16
24.	Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation 2022/12/17
25.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy 2022/10/14
26.	A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss 2022/06/04
27.	Two cases showing a microdeletion of 5q14.3 where MEF2C is Iocated 2022/06/04
28.	2nd survey of nursery schooling and parental employment in Dravet syndrome and West syndrome 2022/06/03
29.	A study on under-recognized non epileptic seizures in Glut1 deficiency syndrome 2022/06/03
30.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy 2022/06/03
31.	Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) 2022/06/03
32.	Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD 2022/06/03
33.	Evaluation of clinical features and timing of ERT inition, based on biomarkers and genotype in female Fabry disease 2021/10/14
34.	A Survey of Home Bathing in Infantile-onset Intractable Epilepsy. 2021/09/23
35.	A Survey of Nursery/School Swimming in Infantile-onset Intractable Epilepsy. 2021/09/23
36.	Nationwide survey of medical care situations for myotonic dystrophy in Japan 2021/08/28
37.	A Survey of Home Bathing and Nursery/School Swimming in Children with Infantile-onset Intractable Epilepsy in Japan 2021/06/10
38.	A case of Chorea as the firstmanifestation of antiphospholipid syndrome 2021/05/29
39.	A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness 2021/05/29
40.	Autopsy findings of Vici syndrome with refractory diarrhea 2021/05/28
41.	Correlation between BNP and NT-proBNP in muscular dystrophy 2021/05/28
42.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy 2021/05/28
43.	Nationwide survey of medical care situations for myotonic dystrophy in Japan 2021/05/28
44.	Infant nutrition and intestinal microbiota 2021/04/17
45.	Anxiety in Gelbert syndrome　-association with Vitamin D deficiency- 2020/08/21
46.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant 2020/08/19
47.	Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy 2020/08/19
48.	Clinical features of discontinuation of antiepileptic drugs in patients with West syndrome 2020/08/19
49.	Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients 2020/08/19
50.	Early physical therapy intervention for an infant with Wolf-Hirschhorn syndrome : acase report 2020/08/19
51.	Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance 2020/08/19
52.	Mechanism of chromosomal structural abnormalities with increased copy number at both ends 2020/08/19
53.	Questionnaire survey on attitude toward gene therapy for glucose transporter 1 deficiency 2020/08/19
54.	Study on epilepsy and ingestive status in severe motor and intellectual disabilities 2020/08/19
55.	The significance of the assessment for visual and fine motor skills in prematurely born babies 2020/08/19
56.	Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry 2019/10/04
57.	Urinary titin fragment in Fukuyama congenital muscular dystrophy 2019/10/04
58.	A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan 2019/10/02
59.	Characteristic findings of skeletal muscle MRI in Cavecolinopathies 2019/10/02
60.	Characteristic skeletal muscle imuscle imaging patterns in Japanese patients with Pompe disease 2019/07/13
61.	Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy 2019/06/01
62.	Chinical features of seizure relapse after ACTH therapy inWest syndrome 2019/06/01
63.	Effect of nusinersen on gross and fine motor -A case of spinal muscular atrophy type 1- 2019/06/01
64.	Four cases of ACTH-induced seizures 2019/06/01
65.	The cliniczl issues about the neurodevelopmental disorders in the vwry low birth weight babies 2019/06/01
66.	A new case of 19q13.32 deletion with psychomotor delay, characteristic face, cardiac malformation 2019/05/31
67.	A questionnarvey of intellectual development in Fukuyama congenital muscular dystrophy 2019/05/31
68.	Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy 2019/05/31
69.	Urinary titin fragment in Fukuyama congenital muscular dystrophy 2019/05/31
70.	The correlation between brain MRI imaging and biochemical and molecular findings in Japanese female patients with Fabry disease 2019/02/05
71.	The effectiveness of nusinersen in 3 patients with spinal muscular atrophy type I receiving TPPV 2018/06/02
72.	A case with severe psychomotor retardation and diarrhea:Vici syndrome caused by EPG5 mutations? 2018/06/01
73.	Care and prevention of foot disorders in Bethelm myopathy patients 2018/06/01
74.	Correlations between Brain image and molecular molecular and biochemistry findings in female Fabry patients 2018/06/01
75.	Developmental outcomes of very low birth weight babies with intraventricular hemorrhage 2018/06/01
76.	Early diagnosis and prompt initiation of enzyme replacement therapy in a 1-year-old girl with Pompe disease 2018/06/01
77.	Effects of antiepileptic drugs on shuddering attacks 2018/06/01
78.	The clinical study for the very low birth weight babies with posthemorrhagic hydrocephalus 2018/06/01
79.	Three patients with excessive X-chromosomes complicated with focal epilepsy 2018/06/01
80.	Unexpected high valproate levels and neutropenia in infant with West syndrome and SCAD deficiency 2018/06/01
81.	A girl with Fabry disease presenting with refractory chronic migraine 2018/05/31
82.	Efficacy of perampanel on patients with refractory epilepsy older than 12 years of age 2018/05/31
83.	Importance of the comprehensive medical care for patients with tuberous sclerous sclerous sclerosis complex in TWMU 2018/05/31
84.	Modified gross motor function measure for Fukuyama congenital muscular dystrophy 2018/05/31
85.	Outcomes in light-for-date neonates with very low birth weight by cohort 2018/05/31
86.	Study on childcare counseling cases where the problem of nuraing ability of families became apparent 2018/05/31
87.	The questionnaire survey about the process and the notice of diagnosis for the FCMD patient's family 2018/05/31
88.	B-cell precursor acute lymphoblastic leukemia with multiple metastatic anapestic ependymoma 2017/10/20
89.	Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy 2017/10/14
90.	Efficacy of continuous midazolam infusion for hyperthermia-induced seizures in Dravet syndrome 2017/09/05
91.	Comparison of seizure outcome in patients with West syndrome after extremely low-dose adrenocorticotropic hormone therapy 2017/09/04
92.	Two cases of narcolepsy with unique cataplexy mimicking epileptic seizures on the long-term video electroencephalography 2017/09/03
93.	Post-mortem pancreatic pathology in a child with MELAS 2017/06/16
94.	A Japanese nationwide survey on congenital myotonic dystrophy 2017/05/13
95.	Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study 2017/05/13
96.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy 2017/05/13
97.	Developmental characteristics in early infancy of ASD children 2017/05/12
98.	Outcomes and MR Imaging in neonates with hypoxia-ischemia encephalopalopathy treated by hypothermia 2017/05/12
99.	Symptomatic Epilepsy with chromosome aberration:Report of two cases 2017/05/11
100.	Anti TNF-α therapy for very ealy onset-inflammatory bowel disease:a single center experience in Japan 2016/10/06
101.	Anti TNF-α therapy for very ealy onset-inflammatory bowel disease:a single center experience in Japan 2016/07/07
102.	Brain-Gut axis and microbiota 2016/06/04
103.	Effcacy of particular therapy to atypical evolutions of idiopathic focal epilepsy in childhood 2016/06/04
104.	MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts 2016/06/04
105.	Outcomes and MR imaging in neonates with hypoxis-ischemia encephalopathy treated by hypothermia 2016/06/04
106.	Symptomatic epilepsy with chromosome aberration : two case reports 2016/06/04
107.	Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients 2016/06/03
108.	Developmental characteristics in early infancy of the children with autism spectrum disorders 2016/06/03
109.	Diagnosis and prognosis of the neurometabolic diseases among our department 2016/06/03
110.	Early management for two infantile siblings born to GLUT-1 deficiency mother with SLC2A1 mutation 2016/06/03
111.	Effective antiepileptic drugs for epilepsy in Angelman syndorome 2016/06/03
112.	Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan 2016/06/03
113.	Our approach which aimed at ideal transition for muscular dystrophy patients to adult health care 2016/06/03
114.	The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy 2016/06/03
115.	Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy 2016/06/03
116.	Mutation in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease 2016/04/05
117.	Characteristics of a case of Hb Bicetre 〔β63 CAT(His)-CCT(Pro)〕-high oxygen affinity and instability 2015/11/29
118.	Atypical evolutions of idiopathic focal epilepsy in childhood -incidence and clinical characteristics- 2015/10/31
119.	Efficacy of Ketogenic diet for pharmacoresistant myoclonic epilepsy in infancy 2015/10/30
120.	Usefulness of Cholesterol Oxidation Products as Diagnostic and Follow Up Marker for NPC 2015/05/15
121.	A new KCNT1 mutation in a patient with epilepsy of infancy with migrating focal seizures 2014/11/19
122.	Kawasaki Disease and upper GI microbiota 2014/11/01
123.	Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy 2014/10/09
124.	Natural history of motor function in patients with Fukuyama congenital muscular dystrophy 2014/10/09
125.	Renal dysfunction in patients with Fukuyama congenital muscular dystrophy 2014/10/09
126.	Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory 2014/10/07
127.	Dravet syndrome 〜The early diagnosisi and primary care strategy in Tokyo Women's Medical University Hospital〜 2014/10/03
128.	Efficacy of Rufinamide for intractable epilepsy 2014/10/02
129.	Efficacy of Stiripentol for Dravet syndrome 2014/10/02
130.	Skeletal muscle MRI with fat suppression technique can detect early changes in childhood onset Pompe disease in patients receiving ERT 2014/09/27
131.	Characteristics of infants born to mothers with autoimmune disorders 2014/09/20
132.	Safety and efficacy of adalimumab in a girl with refractory intestinal Behcet's disease 2014/09/19
133.	Clinical Characteristics of West Syndrome (WS) in Infants with Perinatal Brain Damage (PBD) 2014/06/24
134.	TRH therapy for 3 infants with a sequela of exanthema subitum-associated AESD 2014/05/30
135.	Morphological differences among cells of BBB and implications for two mitochondrial diseases 2014/05/29
136.	TRH therapy for 4 patients with GLUT-1 deficiency syndrome 2014/05/29
137.	Cytokine increase in the cerebrospinal fluid as the underlying immunological mechanism in a case of Dravet syndrome with acute encephalopathy 2014/02/21
138.	Effect of continuous intake of Lactobacillus casei strain Shirota for controlling infections and fecal microbiota in facilities for the elderly. 2014/02/07
139.	Pancreatic involvement in a child with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes(MELAS) 2013/11/07
140.	The first case of infantile-onset spinocerebellar ataxia in Japan caused by novel autosomal recessive Twinkle/C10orf2 mutations 2013/11/06
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■ Education

1.	1981/04～1987/03	Faculty of Medicine, Juntendo University, Graduated
2.	1989/04～1993/03	〔Doctoral course〕, Faculty of Medicine, Juntendo University, Completed
3.	1996/09～1998/08	〔Doctoral course〕 Paediatric Gastroenterology, Graduate School, Division of Medical Sciences, Postgraduate course, Completed