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

Study of the rare B-s(0) and B-0 decays into the pi(+) pi(-) mu(+) mu(-) final state

A search for the rare decays B-s(0) -> pi(+) pi-mu(+) mu-and B-0 -> pi(+) pi-mu(+) mu-is performed in a data set corresponding to an integrated luminosity of 3.0 fb(-1) collected by the LHCb detector in proton-proton collisions at centre-of-mass energies of 7 and 8 TeV. Decay candidates with pion pairs that have invariant mass in the range 0.5-1.3GeV/c(2) and with muon pairs that do not originate from a resonance are considered. The first observation of the decay B-s(0) -> pi(+) pi-mu(+) mu- and the first evidence of the decay B-0 -> pi(+) pi-mu(+) mu-are obtained and the branching fractions, restricted to the dipion-mass range considered, are measured to be B(B-s(0) -> pi(+) pi-mu(+) mu(-)) =(8.6 +/- 1.5(stat) +/- 0.7(syst) +/- 0.7 (norm)) x 10(-8) and B(B-0 -> pi(+) pi-mu(+) mu(-)) =(2.11 +/- 0.51(stat) +/- 0.15(syst) +/- 0.16(norm)) x10(-8), where the third uncertainty is due to the branching fraction of the decay B-0. -> J/Psi(mu(+) mu(-)) K*(892)(0)(-> K+ pi(-)), used as a normalisation. (C) 2015 The Authors. Published by Elsevier B.V

Measurement of CP violation and constraints on the CKM angle gamma in B-+/- -> DK +/- with D -> K-s(0)pi(+)pi(-) decays

A model-dependent amplitude analysis of B-+/- -> DK +/- with D -> K-s(0)pi(+)pi(-) decays is performed using proton proton collision data, corresponding to an integrated luminosity of 1 fb(-1), recorded by LHCb at a centre-of-mass energy of 7 TeV in 2011. Values of the CP violation observables x +/- and y +/-, which are sensitive to the CKM angle gamma, are measured to be x- = +0.027 +/- 0.0441(-0.008)(+0.010) +/- 0.001, y- = +0.013 +/- 0.0481(-0.007)(+0.009) +/- 0.003, x+ = -0.084 +/- 0.045 +/- 0.009 +/- 0.005, y+ = -0.032 +/- 0.048(-0.009)(+0.010) +/- 0.008, where the first uncertainty is statistical, the second systematic and the third arises from the uncertainty of the D -> K-S(0)pi(+)pi(-) amplitude model. The value of gamma is determined to be (84(-42)(+49))degrees including all sources of uncertainty. Neutral D meson mixing is found to have negligible effect. (C) 2014 The Authors. Published by Elsevier B.V

Evidence for the decay X(3872) -> psi(2S)gamma

Evidence for the decay mode X(3872) -> psi(2S)gamma in B+ -> X(3872)K+ decays is found with a significance of 4.4 standard deviations. The analysis is based on a data sample of proton proton collisions, corresponding to an integrated luminosity of 3 fb(-1), collected with the LHCb detector, at centre-of-mass energies of 7 and 8 TeV. The ratio of the branching fraction of the X(3872) -> psi(2S)gamma decay to that of the X(3872) -> J/psi gamma decay is measured to be B(X(3872) -> psi(2S)gamma)/B(X(3872) -> J/psi gamma) = 2.46 +/- 0.64 +/- 0.29, where the first uncertainty is statistical and the second is systematic. The measured value does not support a pure D (D) over bar* molecular interpretation of the X(3872) state. (C) 2014 CERN for the benefit of the LHCb Collaboration. Published by Elsevier B.V

LHCb detector performance

The LHCb detector is a forward spectrometer at the Large Hadron Collider (LHC) at CERN. The experiment is designed for precision measurements of CP violation and rare decays of beauty and charm hadrons. In this paper the performance of the various LHCb sub-detectors and the trigger system are described, using data taken from 2010 to 2012. It is shown that the design criteria of the experiment have been met. The excellent performance of the detector has allowed the LHCb collaboration to publish a wide range of physics results, demonstrating LHCb's unique role, both as a heavy flavour experiment and as a general purpose detector in the forward region

Effective lifetime measurements in the B-s(0) -> K+K-, B-0 -> K+pi(-) and B-s(0) -> pi K-+(-) decays

Measurements of the effective lifetimes in the B-s(0) -> K+K-, B-0 -> K+pi(-) and B-s(0) -> pi K-+(-) decays are presented using 1.0 fb(-1)of pp collision data collected at a centre-of-mass energy of 7 TeV by the LHCb experiment. The analysis uses a data-driven approach to correct for the decay time acceptance. The measured effective lifetimes are tau(Bs0 -> K+K-) = 1.407 +/- 0.016 (stat) +/- 0.007 (syst) ps, tau(Bs0 -> K+pi-) = 1.524 +/- 0.011 (stat) +/- 0.004 (syst) ps, tau(Bs0 ->pi+K-) = 1.60 +/- 0.06 (stat) +/- 0.01 (syst) ps. This is the most precise determination to date of the effective lifetime in the B-s(0) -> K+K- decay and provides constraints on contributions from physics beyond the Standard Model to the B-s(0) mixing phase and the width difference Delta Gamma(s). (C) 2014 The Authors. Published by Elsevier B.V