At least 150 human proteins are glycosylphosphatidylinositol-anchored proteins (GPI-APs).
The protein moiety of GPI-APs lacking transmembrane domains is anchored to the plasma …

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

High-throughput DNA sequencing technology has transformed genetic research and is
starting to make an impact on clinical practice. However, analyzing high-throughput …

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1. 2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Human DNA profiling using PCR at polymorphic short tandem repeat (STR) loci followed by
capillary electrophoresis (CE) size separation and length-based allele ty** has been the …

Purpose: To assess the yield of diagnostic exome sequencing (DES) and to characterize the
molecular findings in characterized and novel disease genes in patients with epilepsy …

Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …

To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …

Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …