• Search
  • Advanced Search

Search

  • HOME
  • Search
Original Article
Heart Rate Variability and Autonomic Activity in Patients Affected with Rett Syndrome
Deok Young Choi, Jin Ha Chang, Hee Jung Chung
Clin Exp Pediatr. 2003;46(10):996-1002.   Published online October 15, 2003
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 cause. In this study, we are going to find out the possible cause of the higher risk of sudden death in Rett patients by the evaluation of heart rate...
Mutational Analysis of MECP2 Gene in 34 Rett Syndrome
Sang Jo Park, Tae Gyu Hwang, Byeong Hee Son, Chul Min Kim
Clin Exp Pediatr. 2002;45(10):1263-1272.   Published online October 15, 2002
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 stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2...
Case Report
A Case of Rett Syndrome with MECP2 Gene Mutation
Jin Kyung Kim, Chang Seok Ki, Jong Won Kim
Clin Exp Pediatr. 2002;45(4):540-544.   Published online April 15, 2002
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 of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by...
A Case of Rett Syndrome Observed with Video-EEG Monitoring
Hyun Mi Kim, Young Ah Lee, TaecSung Ko, Hyung Nam Moon, Chang Yee Hong
Clin Exp Pediatr. 1994;37(5):718-725.   Published online May 15, 1994
Rett syndrome is progressive neurodegenerative disorder in female patients, characterized by autistic behavior, mental retardation, loss of purposeful hand skills, sterotypic hand movement, breathing dysfunction, severely impaired language, ataxia, and seizure. The diagnosis of Rett syndrome is based on its characteristic clinical manifestation and course. The electroencephalographic(EEG) findings of Rett syndrome are nonspecific, but a progressive deteriorationin the EEF, characterized...
A Case of Rett Syndrome
Kim Hye Soon, Lee Keun
Clin Exp Pediatr. 1993;36(5):743-747.   Published online May 15, 1993
Rett syndrome is a newly characterized developmental disorder that affect girls exclusively. These gils are born clinically normal, but their psychomotor development stagnates and deteriorates between the age of 6 months and 2 years. The full syndrome compriseslaquired microcephaly, severe dementia, autism, loss of purposeul use of the hands, characteristic hand-wringing sterotypes, jerky ataxia of the trunk epilepsy with various types...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)