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Genetic and epileptic features in Rett syndrome
DC Field | Value | Language |
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dc.contributor.author | 이진성 | - |
dc.contributor.author | 강훈철 | - |
dc.contributor.author | 구교연 | - |
dc.contributor.author | 김신혜 | - |
dc.contributor.author | 김효정 | - |
dc.contributor.author | 김흥동 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이준수 | - |
dc.date.accessioned | 2014-12-19T17:49:55Z | - |
dc.date.available | 2014-12-19T17:49:55Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/92141 | - |
dc.description.abstract | 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 syndrome. Our study was aimed at comprehensive analysis of genetic and clinical features in Rett syndrome patients, especially in regards to epileptic features. MATERIALS AND METHODS: We retrospectively reviewed 20 patients who were diagnosed with MECP2 mutations at Severance Children's Hospital between January 1995 and July 2010. All patients met clinical criteria for Rett syndrome. Evaluations included clinical features, epilepsy classification, electroencephalography analysis, and treatment of seizures. RESULTS: Ages ranged from 3.6 to 14.3 years (7.7±2.6). Fourteen different types of MECP2 mutations were found, including a novel in-frame mutation (1153-1188 del36). Fourteen of these patients (70.0%) had epilepsy, and the average age of seizure onset was 3.0±1.8 years. Epilepsy was diverse, including partial seizure in four patients (28.5%), secondarily generalized seizure in six (42.8%), generalized tonic seizure in two (14.3%), Lennox-Gastaut syndrome in one (7.1%), and myoclonic status in non-progressive encephalopathy in one (7.1%). Motor functions were delayed so that only 10 patients (50.0%) were able to walk independently: five (35.8%) in the epilepsy group and five (83.3%) in the non-epilepsy group. Average developmental scale was 33.5±32.8 in the epilepsy group and 44.4±21.2 in the non-epilepsy group. A clear genotype-phenotype correlation was not found. CONCLUSION: There is a tendency for more serious motor impairment and cognitive deterioration in Rett syndrome patients with epilepsy. | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | Epilepsy/genetics* | - |
dc.subject.MESH | Epilepsy/pathology* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Methyl-CpG-Binding Protein 2/genetics* | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Phenotype | - |
dc.subject.MESH | Retrospective Studies | - |
dc.subject.MESH | Rett Syndrome/genetics* | - |
dc.subject.MESH | Rett Syndrome/pathology* | - |
dc.title | Genetic and epileptic features in Rett syndrome | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Clinical Genetics (임상유전학) | - |
dc.contributor.googleauthor | Hyo Jeong Kim | - |
dc.contributor.googleauthor | Shin Hye Kim | - |
dc.contributor.googleauthor | Heung Dong Kim | - |
dc.contributor.googleauthor | Joon Soo Lee | - |
dc.contributor.googleauthor | Young-Mock Lee | - |
dc.contributor.googleauthor | Kyo Yeon Koo | - |
dc.contributor.googleauthor | Jin Sung Lee | - |
dc.contributor.googleauthor | Hoon-Chul Kang | - |
dc.identifier.doi | 22476991 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00102 | - |
dc.contributor.localId | A00187 | - |
dc.contributor.localId | A00677 | - |
dc.contributor.localId | A01205 | - |
dc.contributor.localId | A01208 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A03177 | - |
dc.contributor.localId | A03227 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 22476991 | - |
dc.subject.keyword | Rett syndrome | - |
dc.subject.keyword | epilepsy | - |
dc.subject.keyword | MECP2 mutation | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.alternativeName | Kang, Hoon Chul | - |
dc.contributor.alternativeName | Goo, Kyo Yeon | - |
dc.contributor.alternativeName | Kim, Shin Hye | - |
dc.contributor.alternativeName | Kim, Hyo Jeong | - |
dc.contributor.alternativeName | Kim, Heung Dong | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.alternativeName | Lee, Joon Soo | - |
dc.contributor.affiliatedAuthor | Kang, Hoon Chul | - |
dc.contributor.affiliatedAuthor | Goo, Kyo Yeon | - |
dc.contributor.affiliatedAuthor | Kim, Shin Hye | - |
dc.contributor.affiliatedAuthor | Kim, Hyo Jeong | - |
dc.contributor.affiliatedAuthor | Kim, Heung Dong | - |
dc.contributor.affiliatedAuthor | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | Lee, Joon Soo | - |
dc.contributor.affiliatedAuthor | Lee, Jin Sung | - |
dc.citation.volume | 53 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 495 | - |
dc.citation.endPage | 500 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.53(3) : 495-500, 2012 | - |
dc.identifier.rimsid | 29641 | - |
dc.type.rims | ART | - |
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