Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
https://link.springer.com/content/pdf/10.1007/s12041-020-01244-4.pdf
Reference32 articles.
1. Amir R. E. and Zoghbi H. Y. 2000 Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am. J. Med. Genet. 97, 147–152.
2. Amir R. E., Van den Veyver I. B., Wan M., Tran C. Q., Francke U. and Zoghbi H. Y. 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23, 185–188.
3. Bao X., Downs J., Wong K., Williams S. and Leonard H. 2013 Using a large international sample to investigate epilepsy in Rett syndrome. Dev. Med. Child Neurol. 55, 553-558.
4. Cardoza B., Clarke A., Wilcox J., Gibbon F., Smith P., Archer H. et al. 2011 Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice. Seizure: J. Br. Epilepsy Assoc. 20, 646–649.
5. Cheadle J. P. 2000 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum. Mol. Genet. 9, 1119–1129.
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