Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Epilepsies have a highly heterogeneous background with a strong genetic contribution. The variety of unspecific and overlapping syndromic and nonsyndromic phenotypes often hampers a clear clinical diagnosis and prevents straightforward genetic testing. Knowing the genetic basis of a patient's epilepsy can be valuable not only for diagnosis but also for guiding treatment and estimating recurrence risks.

The molybdenum isotopic composition in river water: Constraints from small catchments

We report molybdenum isotope compositions and concentrations in water samples from a variety of river catchment profiles in order to investigate the influence of anthropogenic contamination, catchment geology, within-river precipitation, and seasonal river flow variations on riverine molybdenum. Our results show that the observed variations in δ98/95Mo from 0‰ to 1.9‰ are primarily controlled by catchment lithology, particularly by weathering of sulfates and sulfides. Erosion in catchments dominated by wet-based glaciers leads to very high dissolved molybdenum concentrations. In contrast, anthropogenic inputs affect neither the concentration nor the isotopic composition of dissolved molybdenum in the rivers studied here. Seasonal variations are also quite muted. The finding that catchment geology exerts the primary control on the delivery of molybdenum to seawater indicates that the flux and isotope composition of molybdenum to seawater has likely varied in the geologic past.