Mental retardation (MR) is defined as an overall intelligence quotient lower than 70, associated
with functional deficit in adaptive behavior, such as daily-living skills, social skills and …

Background Duchenne muscular dystrophy (DMD) is caused by deficient expression of the
cytoskeletal protein, dystrophin. One third of DMD patients also have mental retardation (MR)…

Loss of oligophrenin1 (OPHN1) function in human causes X-linked mental retardation
associated with cerebellar hypoplasia and, in some cases, with lateral ventricle enlargement. In …

Background Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene mutations are
associated with cognitive impairment ranging from nonsyndromic X-linked mental retardation …

The patho-physiological hypothesis of mental retardation caused by the deficiency of the
RhoGAP Oligophrenin1 (OPHN1), relies on the well-known functions of Rho GTPases on …

Cognitive and behavioral disorders are thought to be a result of neuronal dysfunction, but
the underlying molecular defects remain largely unknown. An important signaling pathway …

Oligophrenin-1 regulates dendritic spine morphology in the brain. Mutations in the
oligophrenin-1 gene (OPHN1) cause intellectual disability. We discovered a previously unknown …

Loss of function mutations in human Oligophrenin1 (OPHN1) gene are responsible for syndromic
intellectual disability (ID) associated with cerebellar hypoplasia and cerebral ventricles …

Abnormalities in the formation and function of cerebellar circuitry potentially contribute to
cognitive deficits in humans. In the adult, the activity of the sole output neurons of the cerebellar …

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the
gene MECP2 encoding the methyl‐CpG binding protein 2. This genetic disease affects …