𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


MECP2 deletions and genotype–phenotype c
✍ Elisa Scala; Ilaria Longo; Federica Ottimo; Caterina Speciale; Katia Sampieri; E 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB 👁 2 views

## 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

Genotype–phenotype relationships as prog
✍ Nicky S.J. Halbach; Eric E.J. Smeets; Noortje van den Braak; Kees E.P. van Rooze 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 2 views

## 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