Faculty Information - NAKATSUKASA Hidetsugu

（Last updated : 2025-06-09 16:16:28）

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.	A boy with a novel variant in the ANO3 gene with developmental regression and ataxia （Poster notice，General） 2025/06/05
2.	Questionnaire survey on challenges and needs for transition to adulthood in Glut1 deficiency syndrome （Poster notice，General） 2025/06/05
3.	current situation and issues of developmental outpatient care at our hospital （Poster notice，General） 2025/04/19
4.	Effect of treatment with miglustat ovar 10 years in a patient with late infantile onset Niemann-Pick diasease type C （Poster notice，General） 2024/05/30
5.	The key points to differentiate situation-related seizures from epileptic seizures inGlut1 deficiency syndrome （Speech，General） 2024/05/30
6.	Two infantile patients with pseudohypoaldosteronism assoiated with congenital anomalies of the kidney and urinary tract （Poster notice，General） 2023/04/16
7.	A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss （Poster notice，General） 2022/06/04
8.	A study on under-recognized non epileptic seizures in Glut1 deficiency syndrome （Speech，General） 2022/06/03
9.	A case of Chorea as the firstmanifestation of antiphospholipid syndrome （Speech，General） 2021/05/29
10.	Autopsy findings of Vici syndrome with refractory diarrhea （Poster notice，General） 2021/05/28
11.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant （Poster notice，General） 2020/08/19
12.	Early physical therapy intervention for an infant with Wolf-Hirschhorn syndrome : acase report （Poster notice，General） 2020/08/19
13.	Questionnaire survey on attitude toward gene therapy for glucose transporter 1 deficiency （Poster notice，General） 2020/08/19
14.	A case with severe psychomotor retardation and diarrhea:Vici syndrome caused by EPG5 mutations? （Poster notice，General） 2018/06/01
15.	A girl with Fabry disease presenting with refractory chronic migraine （Poster notice，General） 2018/05/31
16.	Symptomatic Epilepsy with chromosome aberration:Report of two cases （Poster notice，General） 2017/05/11
17.	Symptomatic epilepsy with chromosome aberration : two case reports （Poster notice，General） 2016/06/04
18.	Early management for two infantile siblings born to GLUT-1 deficiency mother with SLC2A1 mutation （Poster notice，General） 2016/06/03
19.	TRH therapy for 3 infants with a sequela of exanthema subitum-associated AESD （Speech，General） 2014/05/30
20.	TRH therapy for 4 patients with GLUT-1 deficiency syndrome （Poster notice，General） 2014/05/29
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