Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …

▪ Abstract The forebrain comprises an intricate set of structures that are required for some of
the most complex and evolved functions of the mammalian brain. As a reflection of its …

A large French family including members affected by nonspecific X-linked mental
retardation, with or without autism or pervasive developmental disorder in affected male …

Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx)
developed with small brains due to suppressed proliferation and regional deficiencies in the …

Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …

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 …

Genetic factors have an important role in the aetiology of mental retardation. However, their
contribution is often underestimated because in developed countries, severely affected …

X-Linked intellectual disability (XLID) accounts for 5%–10% of intellectual disability in males.
Over 150 syndromes, the most common of which is the fragile X syndrome, have been …