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Genetic and Epileptic Features in Rett Syndrome
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 fea...
Autores principales: | Kim, Hyo Jeong, Kim, Shin Hye, Kim, Heung Dong, Lee, Joon Soo, Lee, Young-Mock, Koo, Kyo Yeon, Lee, Jin Sung, Kang, Hoon-Chul |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Yonsei University College of Medicine
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3343433/ https://www.ncbi.nlm.nih.gov/pubmed/22476991 http://dx.doi.org/10.3349/ymj.2012.53.3.495 |
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