Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive
and behavioural deficits and represent a major public health burden. FXS is the most …

Rationale Advances in understanding the underlying mechanisms of conditions such as
fragile X syndrome (FXS) and autism spectrum disorders have revealed heterogeneous …

Abstract X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-
layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or …

We present a series of 26 patients, all> 50 years of age, who are carriers of the fragile X
premutation and are affected by a multisystem, progressive neurological disorder. The two …

Primary or nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in
which affected patients do not have any distinctive clinical or biochemical features in …

The genetic causes of malformations of cortical development (MCD) remain largely
unknown. Here we report the discovery of multiple pathogenic missense mutations in …

Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and
behavioral problems. It is caused by expansion of a CGG repeat in the 5′ untranslated …

Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located
on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including …

Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder
associated with a defect in neuronal migration. Clinical manifestations are epilepsy and …

Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and
autistic spectrum disorder, is typically caused by transcriptional silencing of the X-linked …