Protein serine/threonine phosphatases (PPPs) are ancient enzymes, with distinct types
conserved across eukaryotic evolution. PPPs are segregated into types primarily on the …

Intracellular Ca 2+ signals are temporally controlled and spatially restricted. Signaling
occurs adjacent to sites of Ca 2+ entry and/or release, where Ca 2+-dependent effectors and …

Objective Somatic variants are a recognized cause of epilepsy‐associated focal
malformations of cortical development (MCD). We hypothesized that somatic variants may …

The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders
with a strong genetic contribution, but the underlying genetic etiology remains unknown in a …

Abstract Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to
acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V …

To evaluate the additional diagnostic yield of whole exome sequencing (WES) reanalysis in
patients with epilepsy and intellectual disability/mental retardation, we reanalyzed raw WES …

Biological processes are dynamically regulated by signaling networks composed of protein
kinases and phosphatases. Calcineurin, or PP3, is a conserved phosphoserine …

Background Integrating rare variation from trio family and case–control studies has
successfully implicated specific genes contributing to risk of neurodevelopmental disorders …

Although there are many known Mendelian genes linked to epileptic or developmental and
epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we …

Short linear motifs (SLiMs) drive dynamic protein-protein interactions essential for signaling,
but sequence degeneracy and low binding affinities make them difficult to identify. We …