X-chromosome inactivation (XCI) is the epigenetic mechanism that ensures X-linked dosage
compensation between cells of females (XX karyotype) and males (XY). XCI is essential for …

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Epilepsy genetics is a rapidly develo** field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

Understanding the aetiology of epilepsy is essential both for clinical management of patients
and for conducting neurobiological research that will direct future therapies. The aetiology of …

Neurodevelopmental disorders can be caused by many different genetic abnormalities that
are individually rare but collectively common. Specific genetic causes, including certain copy …

The WAVE regulatory complex (WRC) controls actin cytoskeletal dynamics throughout the
cell by stimulating the actin-nucleating activity of the Arp2/3 complex at distinct membrane …

Optimizing gas exchange, avoiding lung injury, and preserving respiratory muscle strength
and endurance are vital therapeutic objectives for managing acute lung injury. Accordingly …