Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome

OBJECTIVE: Dravet syndrome is a rare neurodevelopmental disorder characterized by seizures and other neurologic problems. SCN1A mutations account for ∼80% of cases. Animal studies have implicated mutation-related dysregulated cortical inhibitory networks in its pathophysiology. We investigated such networks in people with the condition. METHODS: Transcranial magnetic stimulation using single and paired pulse paradigms was applied to people with Dravet syndrome and to 2 control groups to study motor cortex excitability. RESULTS: Short interval intracortical inhibition (SICI), which measures GABAergic inhibitory network behavior, was undetectable in Dravet syndrome, but detectable in all controls. Other paradigms, including those testing excitatory networks, showed no difference between Dravet and control groups. CONCLUSIONS: There were marked differences in inhibitory networks, detected using SICI paradigms, while other inhibitory and excitatory paradigms yielded normal results. These human data showing reduced GABAergic inhibition in vivo in people with Dravet syndrome support established animal models

Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy

Epilepsy commonly presents in childhood as part of a syndrome, and some such children may reach adult services without an underlying syndromic diagnosis. For adult neurologists taking over their care, it is often unclear how hard to search for an underlying diagnosis. The diagnostic yield may be small and such a diagnosis may not change management. Young adults with learning difficulties are also challenging to investigate, as they may not tolerate standard epilepsy tests.We present such a case in which simple tests identified a unifying diagnosis. With the new diagnosis came a new treatment that had a significant impact on seizures and quality of life

The Discovery of Argon in Comet C/1995 O1 (Hale-Bopp)

On 30.14 March 1997 we observed the EUV spectrum of the bright comet C/1995 O1 (Hale-Bopp) at the time of its perihelion, using our EUVS sounding rocket telescope/spectrometer. The spectra reveal the presence H Ly beta, O+, and, most notably, Argon. Modelling of the retrieved Ar production rates indicates that comet Hale-Bopp is enriched in Ar relative to cosmogonic expectations. This in turn indicates that Hale-Bopp's deep interior has never been exposed to the 35-40 K temperatures necessary to deplete the comet's primordial argon supply.Comment: 9 pages, 2 figures. ApJ, 545, in press (2000

Retinal nerve fibre layer thinning is associated with drug resistance in epilepsy.

Retinal nerve fibre layer (RNFL) thickness is related to the axonal anterior visual pathway and is considered a marker of overall white matter 'integrity'. We hypothesised that RNFL changes would occur in people with epilepsy, independently of vigabatrin exposure, and be related to clinical characteristics of epilepsy

The Nature and Frequency of the Gas Outbursts in Comet 67P/Churyumov-Gerasimenko observed by the Alice Far-ultraviolet Spectrograph on Rosetta

Alice is a far-ultraviolet imaging spectrograph onboard Rosetta that, amongst multiple objectives, is designed to observe emissions from various atomic and molecular species from within the coma of comet 67P/Churyumov-Gerasimenko. The initial observations, made following orbit insertion in August 2014, showed emissions of atomic hydrogen and oxygen spatially localized close to the nucleus and attributed to photoelectron impact dissociation of H2O vapor. Weaker emissions from atomic carbon were subsequently detected and also attributed to electron impact dissociation, of CO2, the relative H I and C I line intensities reflecting the variation of CO2 to H2O column abundance along the line-of-sight through the coma. Beginning in mid-April 2015, Alice sporadically observed a number of outbursts above the sunward limb characterized by sudden increases in the atomic emissions, particularly the semi-forbidden O I 1356 multiplet, over a period of 10-30 minutes, without a corresponding enhancement in long wavelength solar reflected light characteristic of dust production. A large increase in the brightness ratio O I 1356/O I 1304 suggests O2 as the principal source of the additional gas. These outbursts do not correlate with any of the visible images of outbursts taken with either OSIRIS or the navigation camera. Beginning in June 2015 the nature of the Alice spectrum changed considerably with CO Fourth Positive band emission observed continuously, varying with pointing but otherwise fairly constant in time. However, CO does not appear to be a major driver of any of the observed outbursts.Comment: 6 pages, 4 figures, accepted for publication in the Astrophysical Journal Letter

Alice: The Rosetta Ultraviolet Imaging Spectrograph

We describe the design, performance and scientific objectives of the NASA-funded ALICE instrument aboard the ESA Rosetta asteroid flyby/comet rendezvous mission. ALICE is a lightweight, low-power, and low-cost imaging spectrograph optimized for cometary far-ultraviolet (FUV) spectroscopy. It will be the first UV spectrograph to study a comet at close range. It is designed to obtain spatially-resolved spectra of Rosetta mission targets in the 700-2050 A spectral band with a spectral resolution between 8 A and 12 A for extended sources that fill its ~0.05 deg x 6.0 deg field-of-view. ALICE employs an off-axis telescope feeding a 0.15-m normal incidence Rowland circle spectrograph with a concave holographic reflection grating. The imaging microchannel plate detector utilizes dual solar-blind opaque photocathodes (KBr and CsI) and employs a 2 D delay-line readout array. The instrument is controlled by an internal microprocessor. During the prime Rosetta mission, ALICE will characterize comet 67P/Churyumov-Gerasimenko's coma, its nucleus, and the nucleus/coma coupling; during cruise to the comet, ALICE will make observations of the mission's two asteroid flyby targets and of Mars, its moons, and of Earth's moon. ALICE has already successfully completed the in-flight commissioning phase and is operating normally in flight. It has been characterized in flight with stellar flux calibrations, observations of the Moon during the first Earth fly-by, and observations of comet Linear T7 in 2004 and comet 9P/Tempel 1 during the 2005 Deep Impact comet-collision observing campaignComment: 11 pages, 7 figure

Rosetta-Alice Observations of Exospheric Hydrogen and Oxygen on Mars

The European Space Agency's Rosetta spacecraft, en route to a 2014 encounter with comet 67P/Churyumov-Gerasimenko, made a gravity assist swing-by of Mars on 25 February 2007, closest approach being at 01:54UT. The Alice instrument on board Rosetta, a lightweight far-ultraviolet imaging spectrograph optimized for in situ cometary spectroscopy in the 750-2000 A spectral band, was used to study the daytime Mars upper atmosphere including emissions from exospheric hydrogen and oxygen. Offset pointing, obtained five hours before closest approach, enabled us to detect and map the HI Lyman-alpha and Lyman-beta emissions from exospheric hydrogen out beyond 30,000 km from the planet's center. These data are fit with a Chamberlain exospheric model from which we derive the hydrogen density at the 200 km exobase and the H escape flux. The results are comparable to those found from the the Ultraviolet Spectrometer experiment on the Mariner 6 and 7 fly-bys of Mars in 1969. Atomic oxygen emission at 1304 A is detected at altitudes of 400 to 1000 km above the limb during limb scans shortly after closest approach. However, the derived oxygen scale height is not consistent with recent models of oxygen escape based on the production of suprathermal oxygen atoms by the dissociative recombination of O2+.Comment: 17 pages, 8 figures, accepted for publication in Icaru