Viral infection of the cell is able to initiate a signaling cascade of events that ultimately
attempts to limit viral replication and prevent escalating infection through expression of host …

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

Over the last few years, anisotropy has become a" hot topic" in seismic exploration and
seismology. It is now recognised that geological media deviate more or less from isotropy. This …

The ability of a host to curb a viral infection is heavily reliant on the effectiveness of an initial
antiviral innate immune response, resulting in the upregulation of interferon (IFN) and, …

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. …

Glutathione (GSH) and its derivative phytochelatin are important binding factors in transition-metal
homeostasis in many eukaryotes. Here, we demonstrate that GSH is also involved in …

The idea that the propagation of elastic waves can be anisotropic, ie, that the velocity may
depend on the direction, is about 175 years old. The first steps are connected with the top …

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Na v 1.2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental
disorders often beginning in infancy or early childhood that are characterized by intractable …

Nonspherical wavefronts in anisotropic media are often assumed to be approximately elliptical.
However, in transversely isotropic media only the wavefront of SH waves is always an …