(Last updated : 2024-10-04 17:08:43)
  Nakatsukasa Hidetsugu
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  Department of Pediatrics
   Position   Assistant Professor
■ Published papers
1. Original article  Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome 2024/04/24
2. Case report  A Case Angelman Syndrome Who Suffered Hemiconvulsion-Hemiplegia-Epilepsy Syndrome 2022/02/25
3. 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 Link
4. 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
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