Genetic and epileptic features in rett syndrome

Hyo Jeong Kim, Shin Hye Kim, Heung Dong Kim, Joon Soo Lee, Young Mock Lee, Kyo Yeon Koo, Jin Sung Lee, Hoon Chul Kang

Research output: Contribution to journalReview article

5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)495-500
Number of pages6
JournalYonsei medical journal
Volume53
Issue number3
DOIs
Publication statusPublished - 2012 May 1

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Rett Syndrome
Epilepsy
Seizures
Methyl-CpG-Binding Protein 2
Mutation
Genetic Association Studies
Brain Diseases
Age of Onset
Electroencephalography

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Kim, Hyo Jeong ; Kim, Shin Hye ; Kim, Heung Dong ; Lee, Joon Soo ; Lee, Young Mock ; Koo, Kyo Yeon ; Lee, Jin Sung ; Kang, Hoon Chul. / Genetic and epileptic features in rett syndrome. In: Yonsei medical journal. 2012 ; Vol. 53, No. 3. pp. 495-500.
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title = "Genetic and epileptic features in rett syndrome",
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.",
author = "Kim, {Hyo Jeong} and Kim, {Shin Hye} and Kim, {Heung Dong} and Lee, {Joon Soo} and Lee, {Young Mock} and Koo, {Kyo Yeon} and Lee, {Jin Sung} and Kang, {Hoon Chul}",
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Kim, HJ, Kim, SH, Kim, HD, Lee, JS, Lee, YM, Koo, KY, Lee, JS & Kang, HC 2012, 'Genetic and epileptic features in rett syndrome', Yonsei medical journal, vol. 53, no. 3, pp. 495-500. https://doi.org/10.3349/ymj.2012.53.3.495

Genetic and epileptic features in rett syndrome. / Kim, Hyo Jeong; Kim, Shin Hye; Kim, Heung Dong; Lee, Joon Soo; Lee, Young Mock; Koo, Kyo Yeon; Lee, Jin Sung; Kang, Hoon Chul.

In: Yonsei medical journal, Vol. 53, No. 3, 01.05.2012, p. 495-500.

Research output: Contribution to journalReview article

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T1 - Genetic and epileptic features in rett syndrome

AU - Kim, Hyo Jeong

AU - Kim, Shin Hye

AU - Kim, Heung Dong

AU - Lee, Joon Soo

AU - Lee, Young Mock

AU - Koo, Kyo Yeon

AU - Lee, Jin Sung

AU - Kang, Hoon Chul

PY - 2012/5/1

Y1 - 2012/5/1

N2 - 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.

AB - 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.

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