- Genetic and Epileptic Features in Rett Syndrome
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
