38 research outputs found
Search for Sub-TeV Gamma Rays Coincident with BATSE Gamma Ray Bursts
Project GRAND is a 100m x 100m air shower array of proportional wire chambers
(PWCs). There are 64 stations each with eight 1.29 m^2 PWC planes arranged in
four orthogonal pairs placed vertically above one another to geometrically
measure the angles of charged secondaries. A steel plate above the bottom pair
of PWCs differentiates muons (which pass undeflected through the steel) from
non-penetrating particles. FLUKA Monte Carlo studies show that a TeV gamma ray
striking the atmosphere at normal incidence produces 0.23 muons which reach
ground level where their angles and identities are measured. Thus,
paradoxically, secondary muons are used as a signature for gamma ray primaries.
The data are examined for possible angular and time coincidences with eight
gamma ray bursts (GRBs) detected by BATSE. Seven of the GRBs were selected
because of their good acceptance by GRAND and high BATSE Fluence. The eighth
GRB was added due to its possible coincident detection by Milagrito. For each
of the eight candidate GRBs, the number of excess counts during the BATSE T90
time interval and within plus or minus five degrees of BATSE's direction was
obtained. The highest statistical significance reported in this paper (2.7
sigma) is for the event that was predicted to be the most likely to be observed
(GRB 971110).Comment: To be presented at the XXVIII International Cosmic Ray Conference,
Tsukuba, Japa
Observation of the Ankle and Evidence for a High-Energy Break in the Cosmic Ray Spectrum
We have measured the cosmic ray spectrum at energies above eV using
the two air fluorescence detectors of the High Resolution Fly's Eye experiment
operating in monocular mode. We describe the detector, PMT and atmospheric
calibrations, and the analysis techniques for the two detectors. We fit the
spectrum to models describing galactic and extragalactic sources. Our measured
spectrum gives an observation of a feature known as the ``ankle'' near eV, and strong evidence for a suppression near eV.Comment: 14 pages, 9 figures. To appear in Physics Letters B. Accepted versio
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
BACKGROUND: Mutations of SCN8A encoding the neuronal voltage-gated sodium channel NaV1.6 are associated with early-infantile epileptic encephalopathy type 13 (EIEE13) and intellectual disability. Using clinical exome sequencing, we have detected three novel de novo SCN8A mutations in patients with intellectual disabilities, and variable clinical features including seizures in two patients. To determine the causality of these SCN8A mutations in the disease of those three patients, we aimed to study the (dys)function of the mutant sodium channels. METHODS: The functional consequences of the three SCN8A mutations were assessed using electrophysiological analyses in transfected cells. Genotype-phenotype correlations of these and other cases were related to the functional analyses. RESULTS: The first mutant displayed a 10 mV hyperpolarising shift in voltage dependence of activation (gain of function), the second did not form functional channels (loss of function), while the third mutation was functionally indistinguishable from the wildtype channel. CONCLUSIONS: Comparison of the clinical features of these patients with those in the literature suggests that gain-of-function mutations are associated with severe EIEE, while heterozygous loss-of-function mutations cause intellectual disability with or without seizures. These data demonstrate that functional analysis of missense mutations detected by clinical exome sequencing, both inherited and de novo, is valuable for clinical interpretation in the age of massive parallel sequencing