Faculty Information - ETOU Kaoru

■ Published papers

1.	Original article	Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria 2024/06/21
2.	Review article	Clinical and patlolgical manifestations and metabolism in lysosomal storage disorders 2024/05/01
3.	Case report	Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus. 2023/11/08
4.	Case report	Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report. 2023/05/27
5.	Case report	Pain Alleviation With Enzyme Replacement Therapy in Childhood Female Fabry Disease: A Case Report 2023/04/25
6.	Case report	Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis 2022/12/05
7.	Case report	Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency 2021/03/23
8.	Case report	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting 2021/03/06
9.	Original article	Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat 2020/09/29
10.	Case report	A novel PAFAH1B1 splicing variant identified in a patient with classical lissencephaly 2019
11.	Case report	Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG 2018/11
12.	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
13.	Original article	Two cases of chidhood narcolepsy mimicking epileptic seizures in video-EEG/EMG 2018/05
14.	Original article	Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation 2014/02
15.	Original article	Development of catecholamine and cortisol stress responses in zebrafish. 2014
16.	Original article	Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. 2013/12
17.	Case report	A Child with paroxysmal Exertion-Induced Dyskinesia 2012/05/01
18.	Original article	β-Ureidopropionase dificiency:Phenotype,genotype and protein structural consequences in 16 patients 2012/04
19.	Original article	Role of dual leucine zipper-bearing kinase (DLK/MUK/ZPK) in axonal growth. 2010/01
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■ Academic conference presentation

1.	A case of 46,X,der(Y)t(X;Y)(p22.1;q11.221) in a male （口頭，一般） 2025/06/07
2.	A boy with a novel variant in the ANO3 gene with developmental regression and ataxia （ポスター掲示，一般） 2025/06/05
3.	Effect of treatment with miglustat ovar 10 years in a patient with late infantile onset Niemann-Pick diasease type C （ポスター掲示，一般） 2024/05/30
4.	A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance （ポスター掲示，一般） 2023/05/26
5.	CNS treatment of CLN2 （口頭，シンポジウム・ワークショップパネル（指名）） 2023/04/01
6.	Case Presentations （口頭，シンポジウム・ワークショップパネル（指名）） 2022/07/02
7.	A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss （ポスター掲示，一般） 2022/06/04
8.	Two cases showing a microdeletion of 5q14.3 where MEF2C is Iocated （ポスター掲示，一般） 2022/06/04
9.	Evaluation of clinical features and timing of ERT inition, based on biomarkers and genotype in female Fabry disease （ポスター掲示，一般） 2021/10/14
10.	A case of Chorea as the firstmanifestation of antiphospholipid syndrome （口頭，一般） 2021/05/29
11.	Autopsy findings of Vici syndrome with refractory diarrhea （ポスター掲示，一般） 2021/05/28
12.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant （ポスター掲示，一般） 2020/08/19
13.	Early physical therapy intervention for an infant with Wolf-Hirschhorn syndrome : acase report （ポスター掲示，一般） 2020/08/19
14.	Questionnaire survey on attitude toward gene therapy for glucose transporter 1 deficiency （ポスター掲示，一般） 2020/08/19
15.	Usefulness of Fabry Stabilization Index in Japanese female patients with Fabry disease （口頭，一般） 2020/02/10
16.	Japanese experience of diagnosis and management of CLN （口頭，一般） 2019/10/19
17.	Effect of nusinersen on gross and fine motor -A case of spinal muscular atrophy type 1- （口頭，一般） 2019/06/01
18.	The correlation between brain MRI imaging and biochemical and molecular findings in Japanese female patients with Fabry disease （ポスター掲示，一般） 2019/02/05
19.	Intra-familial Phenotypic Variability of Fabry disease- Three siblings cases （口頭，シンポジウム・ワークショップパネル（指名）） 2018/08/26
20.	Correlations between Brain image and molecular molecular and biochemistry findings in female Fabry patients （口頭，一般） 2018/06/01
21.	Unexpected high valproate levels and neutropenia in infant with West syndrome and SCAD deficiency （ポスター掲示，一般） 2018/06/01
22.	A girl with Fabry disease presenting with refractory chronic migraine （ポスター掲示，一般） 2018/05/31
23.	Clinical manifestation of Japanese juvenile onset NP-C patient complicated with giant ovarian tumor （ポスター掲示，シンポジウム・ワークショップパネル（指名）） 2018/03/17
24.	Efficacy of continuous midazolam infusion for hyperthermia-induced seizures in Dravet syndrome （ポスター掲示，一般） 2017/09/05
25.	Comparison of seizure outcome in patients with West syndrome after extremely low-dose adrenocorticotropic hormone therapy （ポスター掲示，一般） 2017/09/04
26.	Two cases of narcolepsy with unique cataplexy mimicking epileptic seizures on the long-term video electroencephalography （ポスター掲示，一般） 2017/09/03
27.	NPC:plasma oxysterol lysosphingomyelin-509 as potential biomarker measured by tandem MS （口頭，一般） 2016/06/04
28.	Diagnosis and prognosis of the neurometabolic diseases among our department （ポスター掲示，一般） 2016/06/03
29.	Effective antiepileptic drugs for epilepsy in Angelman syndorome （口頭，一般） 2016/06/03
30.	Usefulness of Cholesterol Oxidation Products as Diagnostic and Follow Up Marker for NPC （ポスター掲示，一般） 2015/05/15
31.	The clinical course of MPS1S patient with cardiac valve disease （ポスター掲示，シンポジウム・ワークショップパネル（指名）） 2014/11/08
32.	Selection of isotonic saline as initial parenteral fluid therapy for children with either of high fever, vomiting and dyspnea （口頭，一般） 2011/06/02
33.	Stress and the role of sonic hedgehog in early development of adrenal cortex and medulla in Zebrafish （口頭，一般） 2011/05/02
34.	Clinical new aspects in MELAS and Leigh encephalopathy （口頭，シンポジウム・ワークショップパネル（指名）） 2007/12/15
35.	A clinical presentation of a female patient with pyruvate dehydrogenase deficiency(PDHC) who was revealed a point mutation(R127W) of E1 alpha subunit: the first case in Japan. （ポスター掲示，一般） 2005/12/17
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■ Conference activities & talks

1.

2023/04/01

Workshop 5　Education Lecture 3; CNS treatment of CLN2 (東京)

■ Research areas

Embryonic medicine and pediatrics, Medical biochemistry, Neurology

■ Education

1.	2001/04～2005/02	〔Doctoral course〕〔Doctorial Course〕, Graduate School, Division of Medicine, Tokyo Women's Medical University, Completed,
2.	1995/04～2001/03	Faculty of Medicine, Tokyo Women's Medical University, Graduated,

■ Academic & professional experience

1.

2009/09～2011/08

Department of Pediatrics, University of California Los Angeles Researcher