The role of MeCP2 in brain development and neurodevelopmental disorders

ML Gonzales, JM LaSalle - Current psychiatry reports, 2010 - Springer
Abstract Methyl CpG binding protein-2 (MeCP2) is an essential epigenetic regulator in
human brain development. Rett syndrome, the primary disorder caused by mutations in the …

Feeding and swallowing dysfunction in genetic syndromes

L Cooper‐Brown, S Copeland, S Dailey… - Developmental …, 2008 - Wiley Online Library
Children with genetic syndromes frequently have feeding problems and swallowing
dysfunction as a result of the complex interactions between anatomical, medical …

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation

LS Weaving, J Christodoulou, SL Williamson… - The American Journal of …, 2004 - cell.com
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic
cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large …

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome

P Moretti, JA Bouwknecht, R Teague… - Human molecular …, 2005 - academic.oup.com
Rett syndrome (RTT) is an autistic spectrum disorder with a known genetic basis. RTT is
caused by loss of function mutations in the X-linked gene MECP2 and is characterized by …

Rett syndrome

EEJ Smeets, K Pelc, B Dan - Molecular syndromology, 2012 - karger.com
Rett syndrome is one of the most common causes of complex disability in girls. It is
characterized by early neurological regression that severely affects motor, cognitive and …

MECP2 mutations in males

L Villard - Journal of medical genetics, 2007 - jmg.bmj.com
Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively
females. Its prevalence is about 1 in 10 000 female births, and it is a prominent cause of …

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 …

Cognitive training modifies frequency EEG bands and neuropsychological measures in Rett syndrome

RA Fabio, L Billeci, G Crifaci, E Troise… - Research in …, 2016 - Elsevier
Rett syndrome (RS) is a childhood neurodevelopmental disorder characterized by a primary
disturbance in neuronal development. Neurological abnormalities in RS are reflected in …

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 …