- Anesthetic management of a pediatric patient with Rett syndrome: A case report
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Lee AR, Lee HK, Kim YU, Lee JH, Kang HJ, Park SH
- KMID: 2437424
- Anesth Pain Med.
- 2018 Apr;13(2):173-175.
- doi: 10.17085/apm.2018.13.2.173
Rett syndrome is a neurodevelopmental disease that almost always affects female patients. It is caused by mutations in MeCP2 in the majority of cases. Patients diagnosed with Rett syndrome may... -
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- A case of Rett syndrome
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Lee IS, Kim HS, Ahn KH
- KMID: 2058194
- J Korean Acad Rehabil Med.
- 1992 Sep;16(3):310-316.
No abstract available. -
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- A case of Rett syndrome
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Kim HS, Lee K
- KMID: 1945956
- J Korean Pediatr Soc.
- 1993 May;36(5):743-747.
Rett syndrome is a newly characterized developmental disorder that affect girls exclusively. These girls are born clinically normal, but their psychomotor development stagnates and deteriorates between the age of 6... -
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- A Case of Rett Syndrome Observed with Video-EEG Monitoring
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Kim HM, Lee YA, Ko TS, Moon HN, Hong CY
- KMID: 2208529
- J Korean Pediatr Soc.
- 1994 May;37(5):718-725.
Rett syndrome is progressive neurodegenerative disorder in female patients, characterized by autistic behavior, mental retardation, loss of purposeful hand skills, stereotypic hand movement, breathing dysfunction, severely impaired language, ataxia, and... -
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- Heart Rate Variability and Autonomic Activity in Patients Affected with Rett Syndrome
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Choi DY, Chang JH, Chung HJ
- KMID: 2206964
- J Korean Pediatr Soc.
- 2003 Oct;46(10):996-1002.
PURPOSE: In Rett syndrome patients, the incidence of sudden death is greater than that of the general population, and cardiac electrical instability including fatal cardiac arrhythmia is a main suspected... -
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- RETT's syndrome in Korea: report of two cases
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Choi YC, Lee BI, Huh K, Kim GW
- KMID: 1118145
- Yonsei Med J.
- 1991 Jun;32(2):172-178.
- doi: 10.3349/ymj.1991.32.2.172
Rett's syndrome(RS) is a progressive neurodegenerative disorder characterized by exclusive occurrence in females, autistic behavior, dementia, gait ataxia, loss of purposeful use of the hands with stereotypic hand movement, and... -
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- A Case of Rett Syndrome with MECP2 Gene Mutation
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Kim JK, Ki CS, Kim JW
- KMID: 2335627
- J Korean Pediatr Soc.
- 2002 Apr;45(4):540-544.
Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes... -
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- Anesthetic management of an adult patient with Rett syndrome and limited mouth opening: A case report
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Nho JS, Shin DS, Moon JY, Yi JW, Kang JM, Lee BJ, Kim DO, Chung JY
- KMID: 2092326
- Korean J Anesthesiol.
- 2011 Nov;61(5):428-430.
- doi: 10.4097/kjae.2011.61.5.428
Rett syndrome is a neurological disease that occurs only in females and it manifests with mental retardation, seizures, movement disorders, autistic behavior and abnormal breathing. A 19-year-old female with Rett... -
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- Clinical Characteristics of Children with Rett Syndrome
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Han ZA, Jeon HR, Kim SW, Park JY, Chung HJ
- KMID: 2266738
- Ann Rehabil Med.
- 2012 Jun;36(3):334-339.
- doi: 10.5535/arm.2012.36.3.334
OBJECTIVE: To identify the clinical characteristics and investigate function related aspects of Korean children with Rett syndrome. METHOD: A total of 26 patients diagnosed as Rett syndrome were clinically observed until... -
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- Electrodiagnostic Study in Rett Syndrome:A case report
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Hwang Y, Kim H, Park I
- KMID: 2001914
- J Korean Acad Rehabil Med.
- 1997 Apr;21(2):449-454.
Rett syndrome is a progressive encephalopathy in females that appears during the first 18 months of the life. A few neurophysiologic investigations of peripheral nerve and electrodiagnostic studies in Rett... -
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- Use of sugammadex in Rett syndrome: A case report
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Kupeli I, Tepe E, Kuyrukluyıldız U
- KMID: 2419068
- J Dent Anesth Pain Med.
- 2018 Aug;18(4):261-265.
- doi: 10.17245/jdapm.2018.18.4.261
Rett syndrome (RS) is a neurodevelopmental disorder characterized by loss of cognitive, motor, and social skills, epilepsy, autistic behavior, abnormal airway patterns, gastroesophageal reflux, nutritional problems, and severe scoliosis. Although... -
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- Mutations and Polymorphims of MECP2 Gene in Rett Syndrome
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Kim YJ, Lee DH, Kim CM, Choi OH
- KMID: 2272817
- Korean J Obstet Gynecol.
- 2006 Apr;49(4):813-822.
OBJECTIVE: Rett syndrome (RTT) is a severe progressive neurodevelopmental disorder affecting primarily females by mutations in MECP2 gene. The aim of this study was to compare the pattern of mutations... -
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- Genetic and Epileptic Features in Rett Syndrome
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Kim HJ, Kim SH, Kim HD, Lee JS, Lee YM, Koo KY, Lee JS, Kang HC
- KMID: 1776982
- Yonsei Med J.
- 2012 May;53(3):495-500.
- doi: 10.3349/ymj.2012.53.3.495
PURPOSE: Rett syndrome is a severe neurodevelopmental disorder in females. Most have mutations in the methyl-CpG-binding protein 2 (MECP2) gene (80-90%). Epilepsy is a significant commonly accompanied feature in Rett... -
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- Clinical and EEG Characteristics of Epilepsy in Rett Syndrome
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Park JY, Moon JH, Lim BC, Hwang H, Chae JH, Kim KJ, Hwang YS
- KMID: 2181930
- J Korean Epilepsy Soc.
- 2008 Jun;12(1):35-40.
PURPOSE: Rett syndrome (RS) is an X-linked dominant neurodevelopmental disease. The patients with RS have normal early development, however, experience gradual regression of speech and motor development. About 2/3 of... -
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- Induced Pluripotent Stem Cells as a Novel Tool in Psychiatric Research
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Kim S, Kim MK, Oh D, Lee SH, Kim B
- KMID: 2316592
- Psychiatry Investig.
- 2016 Jan;13(1):8-17.
- doi: 10.4306/pi.2016.13.1.8
Reprogramming of somatic cells into induced pluripotent stem cells (iPSCs) provides a valuable opportunity to study neurodevelopmental and neurodegenerative psychiatric diseases by offering an unlimited source for patient-specific neuronal and... -
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- Mutational Analysis of MECP2 Gene in 34 Rett Syndrome
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Park SJ, Hwang TG, Son BH, Kim CM
- KMID: 2335673
- J Korean Pediatr Soc.
- 2002 Oct;45(10):1263-1272.
PURPOSE: Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized... -
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- Child Psychiatry Perspectives on Developmental Disorders
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Cho SC
- KMID: 2178468
- J Korean Acad Rehabil Med.
- 2006 Aug;30(4):303-308.
In this paper, we give an overview of the child psychiatry perspectives on developmental disorders and introduce the diagnostic categories of developmental disorders, based on the DSM-IV and ICD-10 classification... -
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- Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome
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Kim IJ, Kim YJ, Son BH, Nam SO, Kang HC, Kim HD, Yoo MA, Choi OH, Kim CM
- KMID: 1111404
- Exp Mol Med.
- 2006 Apr;38(2):119-125.
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000- 15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl- CpG-binding protein 2). In... -
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- Lactic Acidosis in Children: Clinical and Laboratory Evaluation
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Kim WJ, Yang YJ, Chung HJ
- KMID: 2329324
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):243-251.
PURPOSE: Lactic acidosis is one of the most common forms of metabolic acidosis. It is hard to fine the cause of lactic acidosis, because in many cases the clinical features... -
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- Functional Profiling of Human MeCP2 by Automated Data Comparison Analysis and Computerized Expression Pathway Modeling
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Kim I, Lee SH, Jeong J, Park JH, Yoo MA, Kim CM
- KMID: 2166950
- Healthc Inform Res.
- 2016 Apr;22(2):120-128.
- doi: 10.4258/hir.2016.22.2.120
OBJECTIVES: Methyl-CpG binding protein 2 (MeCP2) is a ubiquitous epigenetic factor that represses gene expression by modifying chromatin. Mutations in the MeCP2 gene cause Rett syndrome, a progressive neurodevelopmental disorder.... -
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