AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission

Searches for supersymmetry based on events with b jets and four W bosons in pp collisions at 8 TeV

Five mutually exclusive searches for supersymmetry are presented based on events in which b jets and four W bosons are produced in proton-proton collisions at root s = 8TeV. The data, corresponding to an integrated luminosity of 19.5 fb(-1), were collected with the CMS experiment at the CERN LHC in 2012. The five studies differ in the leptonic signature from the W boson decays, and correspond to all-hadronic, single-lepton, opposite-sign dilepton, same-sign dilepton, and >= 3 lepton final states. The results of the five studies are combined to yield 95% confidence level limits for the gluino and bottom-squark masses in the context of gluino and bottom-squark pair production, respectively. In the limit when the lightest supersymmetric particle is light, gluino and bottom squark masses are excluded below 1280 and 570 GeV, respectively

Koulutusluokitus : Koulutuskoodimuutokset vuonna 1989, Liite 3

A measurement of inclusive ZZ production cross section and constraints on anomalous triple gauge couplings in proton-proton collisions at $\sqrt{s}$ = 8 TeV are presented. A data sample, corresponding to an integrated luminosity of 19.6 inverse-femtobarns was collected with the CMS experiment at the LHC. The measurements are performed in the leptonic decay modes $ZZ \to lll'l'$, where $l = e, \mu$ and $l' = e, \mu, \tau$. The measured total cross section, $\sigma (pp \to ZZ) = 7.7 \pm 0.5 (stat.)^{+0.5}_{-0.4} (syst.) \pm 0.4 (theo.) \pm 0.2 (lum.) pb$ for both Z bosons produced in the mass range $m_Z$ within 60 and 120 GeV, is consistent with standard model predictions. Differential cross sections are measured and well described by the theoretical predictions. The invariant mass distribution of the four-lepton system is used to set limits on anomalous ZZZ and ZZ$\gamma$ couplings at the 95% confidence level: $f_4^Z$ in (-0.004,+0.004), $f_5^Z$ in (-0.005,+0.005), $f_4^\gamma$ in (-0.004,+0.004), and $f_5^\gamma$ in (-0.005,+0.005)

Description and performance of track and primary-vertex reconstruction with the CMS tracker

A description is provided of the software algorithms developed for the CMS tracker both for reconstructing charged-particle trajectories in proton-proton interactions and for using the resulting tracks to estimate the positions of the LHC luminous region and individual primary-interaction vertices. Despite the very hostile environment at the LHC, the performance obtained with these algorithms is found to be excellent. For t (t) over bar events under typical 2011 pileup conditions, the average track-reconstruction efficiency for promptly-produced charged particles with transverse momenta of p(T) > 0.9GeV is 94% for pseudorapidities of vertical bar eta vertical bar < 0.9 and 85% for 0.9 < vertical bar eta vertical bar < 2.5. The inefficiency is caused mainly by hadrons that undergo nuclear interactions in the tracker material. For isolated muons, the corresponding efficiencies are essentially 100%. For isolated muons of p(T) = 100GeV emitted at vertical bar eta vertical bar < 1.4, the resolutions are approximately 2.8% in p(T), and respectively, 10 m m and 30 mu m in the transverse and longitudinal impact parameters. The position resolution achieved for reconstructed primary vertices that correspond to interesting pp collisions is 10-12 mu m in each of the three spatial dimensions. The tracking and vertexing software is fast and flexible, and easily adaptable to other functions, such as fast tracking for the trigger, or dedicated tracking for electrons that takes into account bremsstrahlung