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

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 …

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, …

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 …

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. …

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 …

Vertical fractures and horizontal fine layering combine to form a long, wavelength equivalent
orthorhombic medium. Such media constitute a subset of the set of all orthorhombic media. …

The development and application of methods to prevent the transmission of damaging mutations
through the human germ line would have considerable health benefits. In an attempt to …

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

Die Frequenzen der Auflagen geben Gelegenheit, die dynamischen Entwicklungen des
Fachgebietes zu reflektieren, für die Lehre aufzubereiten und in einer überarbeiteten Fassung …