CUCINOTTA F.

De novo mutations in the GRIN1 gene have been recently reported as the molecular cause of a broad-spectrum early-onset neurological phenotype. Here, we describe a five-year-old girl with an early-onset epileptic encephalopathy associated with an infantile hyperkinetic movement disorder and oculomotor abnormalities. Whole-exome sequencing...

This study presents a series of light-harvesting materials, where multiple chromophores are organised into host-guest silica-micelle structures at specific locations by means of self-assembly strategies. Binary and ternary mesoscopic antennae were realized, using organometallic complexes and organic dyes as energy transfer units and varying...

Biallelic mutations in the SLC1A4 gene have been identified as a very rare cause of neurodevelopmental disorders. L-serine transport deficiency has been regarded as the causal molecular mechanism underlying the neurological phenotype of SLC1A4 mutation patients. To date this genetic condition has been reported almost exclusively in a limited...