0000000000422436
AUTHOR
Liao
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
AbstractPurposePathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations.MethodsThrough an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3 and we reviewed previously published cases. All missense variants were mapped onto the 3D structure of the GABRB3 subunit and clinical phenotypes associated with the dif…
Residual crystalline silicon phase in silicon-rich-oxide films subjected to high temperature annealing
Structural properties of silicon rich oxide films (SRO) have been investigated by means of micro-Raman spectroscopy and transmission electron microscopy (TEM). The layers were deposited by plasma enhanced chemical vapor deposition using different SiH4/O2 gas mixtures. The Raman spectra of the as-deposited SRO films are dominated by a broad band in the region 400-500 cm-1 typical of a highly disordered silicon network. After annealing at temperatures above 1000°C in N2, the formation of silicon nanocrystals is observed both in the Raman spectra and in the TEM images. However, most of the precipitated silicon does not crystallize and assumes an amorphous microstructure. © 2002 The Electrochem…