Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.

A wide phenotypic spectrum of neurological diseases is associated with KCNA1 (Kv1.1) variants. To investigate the molecular basis of such a heterogeneous clinical presentation and identify the possible correlation with in vitro phenotypes, we compared the functional consequences of three heterozygous de novo variants (p.

Microplastics in the Center of Mediterranean: Comparison of the Two Calabrian Coasts and Distribution from Coastal Areas to the Open Sea.

Plastic is everywhere-increasing evidence suggests that plastic pollution is ubiquitous and persistent in ecosystems worldwide. Microplastic pollution in marine environments is particularly insidious, as small fragmentation can increase interaction with biota and food chain access. Of particular concern is the Mediterranean Sea, which has become a large area of accumulation of plastic debris, including microplastics, whose polymeric composition is still largely unknown.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.