Faculty Information - YASUSHI ITO

（Last updated : 2024-04-02 22:05:36）

YASUSHI ITO
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position

■ Books

1.	Chapter contribution	Walker-Warburg syndrome「小児科診療　小児の症候群」 2016/04
2.	Chapter contribution	chronic recurrent aspiration「ネルソン小児科学原著第19版」 2015/04
3.	Chapter contribution	Glucose transporter type 1 deficiency syndrome「別冊日本臨牀新領域別症候群シリーズ No.31」 2014/12
4.	Chapter contribution	Colpocephaly「別冊日本臨牀新領域別症候群シリーズ No.29」 2014/09
5.	Chapter contribution	Glucose transporter type 1 deficiency syndrome「別冊日本臨牀新領域別症候群シリーズ No.28」 2014/06
6.	Chapter contribution	(GLUT-1 deficiency syndrome)「今日の神経疾患治療指針」 2013/03/15
7.	Chapter contribution	(hypomelanosis of Ito (pigmentary mosaicism))「今日の神経疾患治療指針」 2013/03/15
8.	Chapter contribution	ataxia-telangiectasia「今日の神経疾患治療指針」 2013/03/15
9.	Chapter contribution	neurofibromatosis(NF)「今日の神経疾患治療指針」 2013/03/15
10.	Chapter contribution	Sturge-Weber syndrome (SWS)「今日の神経疾患治療指針」 2013/03/15
11.	Chapter contribution	tuberous sclerosis complex(TSC)「今日の神経疾患治療指針」 2013/03/15
12.	Chapter contribution	Pelizaeus-Merzbacher disease「小児科診療　小児の症候群」 2009/04
13.	Chapter contribution	Walker-Warburg syndrome「小児科診療　小児の症候群」 2009/04
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■ Published papers

1.	Original article	New insights into the pathogenesis of spinal muscular atrophy 2011/04
2.	Original article	Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan 2015/09
3.	Original article	Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome 2023/03
4.	Case report	A Case Series of Dysfunction in Childcare among Families Visiting the Pediatric Consultation System 2022/08/31
5.	Original article	The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome 2020/07
6.	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
7.	Original article	Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey 2016/08
8.	Original article	Fact-finding survey for pain crisis in Fabry disease 2015/12
9.	Original article	Study of epileptic drop attacks in symptomatic epilepsy of early childhood - Differences from those in myoclonic-astatic epilepsy 2015/01
10.	Case report	A casse of gastric wall perforation associated with nasogastric intubation in Fukuyama type congenital muscular dystrophy. 2013/04
11.	Original article	A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013/04
12.	Case report	A Child with paroxysmal Exertion-Induced Dyskinesia 2012/05/01
13.	Original article	A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrom. 2011/07
14.	Review article	Pelizaeus-Merzbacher disease 2009/04/15
15.	Review article	Walker-Warburg syndrome 2009/04/15
16.	Original article	Mowat-W ilson Syndrome Affecting 3 Siblings 2008/03
17.	Case report	Focal epileptic spasms, involving one leg, manifesting during the clinical course of west syndrome (WS). 2008/02
18.	Original article	Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements. 2008
19.	Original article	Modified Atkins diet therapy for a case with glucose transporter type1 deficiency syndrome. 2008
20.	Case report	Two Cases of Generalized Seizures During Growth Hormone Therapy 2007/11/25
21.	Original article	TRH therapy in a patient with juvenile Alexander disease 2006/11
22.	Review article	TRH therapy in a patient with juvenile Alexander disease 2006/09
23.	Case report	Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival. 2005/12
24.	Original article	Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan 2005/06
25.	Case report	Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings 2004/01
26.	Case report	An adult case of 4p- syndrome presenting hemiconvulsion-hemiplegia-epilepsy syndrome 2004
27.	Case report	A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes 2003/09/28
28.	Original article	Clinical study of catastrophic infantile epilepsy with focal seizures 2002/11
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■ Academic conference presentation

1.	Establishment of flow cytometry screening method for patients with glucose transporter 1 deficiency syndrom 2024/04/20
2.	A study on under-recognized non epileptic seizures in Glut1 deficiency syndrome 2022/06/03
3.	Establishment of a flow cytometry screening method for glucose transporter 1 deficiency syndrome (Glut1DS) 2022/06/02
4.	Clinical outcomes of a 5-year-old boy with hypochondroplasia showing clustered epileptic apneas in the neonatal period 2021/04/18
5.	A case of 9p tetrasomy presenting with feeding difficulties due to early satiation 2021/04/16
6.	Questionnaire survey on attitude toward gene therapy for glucose transporter 1 deficiency 2020/08/19
7.	Glut1-Deficiency and ketogenic diets : past, presence and future; "Clinical spectrum and genetic mechanism of GLUT1-DS" 2018/10/07
8.	Effects of antiepileptic drugs on shuddering attacks 2018/06/01
9.	Three patients with excessive X-chromosomes complicated with focal epilepsy 2018/06/01
10.	A girl with Fabry disease presenting with refractory chronic migraine 2018/05/31
11.	Study on childcare counseling cases where the problem of nuraing ability of families became apparent 2018/05/31
12.	Symptomatic Epilepsy with chromosome aberration:Report of two cases 2017/05/11
13.	Neurological manifestation of Glut-1 deficiency 2016/06/10
14.	Symptomatic epilepsy with chromosome aberration : two case reports 2016/06/04
15.	Diagnosis and prognosis of the neurometabolic diseases among our department 2016/06/03
16.	Early management for two infantile siblings born to GLUT-1 deficiency mother with SLC2A1 mutation 2016/06/03
17.	Usefulness of Cholesterol Oxidation Products as Diagnostic and Follow Up Marker for NPC 2015/05/15
18.	Clinical Characteristics of West Syndrome (WS) in Infants with Perinatal Brain Damage (PBD) 2014/06/24
19.	TRH therapy for 3 infants with a sequela of exanthema subitum-associated AESD 2014/05/30
20.	TRH therapy for 4 patients with GLUT-1 deficiency syndrome 2014/05/29
21.	The efficacy of topiramate in patient with Dravet syndrome 2011/10/07
22.	Re-evaluation of ketogenic diet therapy for refractory epilepsy in childhood. Tokyo women's medical university's experience over 40 years. 2010/10/21
23.	Clinical analysis of 4 Dravet syndrome patients undergoing successful long-term Ketogenic-diet therapy 2009/06/10
24.	Congenital myasthenic syndrome in Japan 2007/12/15
25.	The First Japanese Patient with Congenital Myasthenic Syndrome with Acetylcholine Receptor Deficiency 2007/01/24
26.	A case of Pelizeus-Merzbacher disease with pendular nystagmus and developmental delay and diffuse dysmyelination on MRI 1994/03/19
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■ Education

1.	2010/11/19 Degree Acquisition	Tokyo Women's Medical University,
2.	1987/04～1993/03	Wakayama Medical University, Graduated