Lipids are essential metabolites, which function as energy sources, structural components
and signalling mediators. Most cells are able to convert carbohydrates into fatty acids, which …

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

Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …

The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …

Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

Abstract Development in genetic technology has led to the identification of an increasing
number of genes associated with epilepsy. These discoveries will both provide the basis for …

Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …

By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …

Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …