Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice
✍ Scribed by Basil Cardoza; Angus Clarke; Jodie Wilcox; Frances Gibbon; Phil E.M. Smith; Hayley Archer; Anna Hryniewiecka-Jaworska; Mike Kerr
- Book ID
- 116880894
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 172 KB
- Volume
- 20
- Category
- Article
- ISSN
- 1059-1311
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## Abstract Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. __MECP2__ point mutations in exons 2–4 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the gen
## Abstract Rett syndrome (RTT; OMIM 312750) is an X‐linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in __MECP2__, large retrospective genotype–phenotype correl