Clinical and biological progress over 50 years in Rett syndrome

H Leonard, S Cobb, J Downs - Nature Reviews Neurology, 2017 - nature.com
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

Rett syndrome: crossing the threshold to clinical translation

DM Katz, A Bird, M Coenraads, SJ Gray… - Trends in …, 2016 - cell.com
Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has
garnered intense interest in recent years, not only from a broad range of academic scientists …

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

VA Cuddapah, RB Pillai, KV Shekar, JB Lane… - Journal of medical …, 2014 - jmg.bmj.com
Background Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls,
is characterised by a period of apparently normal development until 6–18 months of age …

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

JL Neul, P Fang, J Barrish, J Lane, EB Caeg… - Neurology, 2008 - AAN Enterprises
Objective: To determine if a relationship exists between the clinical features of Rett
syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in …

FOXG1 is responsible for the congenital variant of Rett syndrome

F Ariani, G Hayek, D Rondinella, R Artuso… - The American Journal of …, 2008 - cell.com
Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked
gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification …

Investigating genotype–phenotype relationships in Rett syndrome using an international data set

A Bebbington, A Anderson, D Ravine, S Fyfe… - Neurology, 2008 - AAN Enterprises
Background: Rett syndrome is an uncommon neurodevelopmental disorder with an
incidence of 1: 9,000 live female births. The principal genetic cause was first reported in …

Rett syndrome and MeCP2: linking epigenetics and neuronal function

MD Shahbazian, HY Zoghbi - The American Journal of Human Genetics, 2002 - cell.com
Rett syndrome (RTT [MIM# 312750]) was discovered when two girls who exhibited the same
unusual behaviors happened to be seated next to each other in the waiting room of Andreas …

Rett syndrome: a prototypical neurodevelopmental disorder

JL Neul, HY Zoghbi - The Neuroscientist, 2004 - journals.sagepub.com
Rett syndrome, one of the leading causes of mental retardation and developmental
regression in girls, is the first pervasive developmental disorder with a known genetic cause …

Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome

C Schanen, EJF Houwink, N Dorrani… - American Journal of …, 2004 - Wiley Online Library
Since the identification of mutations in MECP2 in girls and women with apparent Rett
syndrome, numerous efforts have been made to develop phenotype‐genotype correlations …

Rett syndrome: north American database

AK Percy, JB Lane, J Childers… - Journal of child …, 2007 - journals.sagepub.com
The International Rett Syndrome Association (IRSA) North American database is the first
comprehensive compilation of information in the United States and Canada on individuals …