Faculty Information - NAKATSUKASA Hidetsugu

（Last updated : 2025-02-27 15:26:20）

NAKATSUKASA Hidetsugu
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position Assistant Professor

■ Published papers

1.	Other	[PLAIN LANGUAGE SUMMARY] non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome 2025/01/03
2.	Original article	Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome 2024/04/24
3.	Case report	A Case Angelman Syndrome Who Suffered Hemiconvulsion-Hemiplegia-Epilepsy Syndrome 2022/02/25
4.	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
5.	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

■ Academic conference presentation

1.	Effect of treatment with miglustat ovar 10 years in a patient with late infantile onset Niemann-Pick diasease type C 2024/05/30
2.	The key points to differentiate situation-related seizures from epileptic seizures inGlut1 deficiency syndrome 2024/05/30
3.	Two infantile patients with pseudohypoaldosteronism assoiated with congenital anomalies of the kidney and urinary tract 2023/04/16
4.	A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss 2022/06/04
5.	A study on under-recognized non epileptic seizures in Glut1 deficiency syndrome 2022/06/03
6.	A case of Chorea as the firstmanifestation of antiphospholipid syndrome 2021/05/29
7.	Autopsy findings of Vici syndrome with refractory diarrhea 2021/05/28
8.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant 2020/08/19
9.	Early physical therapy intervention for an infant with Wolf-Hirschhorn syndrome : acase report 2020/08/19
10.	Questionnaire survey on attitude toward gene therapy for glucose transporter 1 deficiency 2020/08/19
11.	A case with severe psychomotor retardation and diarrhea:Vici syndrome caused by EPG5 mutations? 2018/06/01
12.	A girl with Fabry disease presenting with refractory chronic migraine 2018/05/31
13.	Symptomatic Epilepsy with chromosome aberration:Report of two cases 2017/05/11
14.	Symptomatic epilepsy with chromosome aberration : two case reports 2016/06/04
15.	Early management for two infantile siblings born to GLUT-1 deficiency mother with SLC2A1 mutation 2016/06/03
16.	TRH therapy for 3 infants with a sequela of exanthema subitum-associated AESD 2014/05/30
17.	TRH therapy for 4 patients with GLUT-1 deficiency syndrome 2014/05/29
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