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

Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …

Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Disease-causing variants in STXBP1 are among the most common genetic causes of
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related …

Clathrin-mediated endocytosis (CME) is crucial for modulating the protein composition of a
cell's plasma membrane. Clathrin forms a cage-like, polyhedral outer scaffold around a …

New approaches to gene discovery and characterization are advancing rapidly our
understanding of the genetic and phenotypic architecture of the epilepsies. This review …

Adaptor protein (AP) complexes are heterotetramers that select cargo for inclusion into
transport vesicles. Five AP complexes (AP-1 to AP-5) have been described, each with a …

Purpose Pathogenic variants in SCN2A cause a wide range of neurodevelopmental
phenotypes. Reports of genotype–phenotype correlations are often anecdotal, and the …

The activity‐dependent fusion, retrieval and recycling of synaptic vesicles is essential for the
maintenance of neurotransmission. Until relatively recently it was believed that most …