Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

Since its first clinical description (on his son) by William James West (1793–1848) in 1841,
and the definition of the classical triad of (1) infantile spasms;(2) hypsarrhythmia, and (3) …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Advances in genetic technology are having a major impact in the clinic, and mean that many
perceptions of the role and scope of genetic testing are having to change. Genomic testing …

An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and
atypical movements are now recognized. These disorders within the 'genetic epilepsy …

Background and Objectives Purine-rich element-binding protein A (PURA) gene encodes
Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a …

In recent years, genome-wide analyses of patients have resulted in the identification of a
number of neurodevelopmental disorders. Several of them are caused by mutations in …

Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major
role in regulation of eukaryotic gene expression. This process is controlled by histone …

Purpose Childhood epilepsies have a strong genetic contribution, but the disease trajectory
for many genetic etiologies remains unknown. Electronic medical record (EMR) data …

The glycosylphosphatidylinositol (GPI) anchor links over 150 proteins to the cell surface and
is present on every cell type. Many of these proteins play crucial roles in neuronal …