Adults with tuberous sclerosis complex: A distinct patient population.

Objectives: There are few data on adults living with tuberous sclerosis complex (TSC), with most studies focusing on pediatric populations. The objective of our study was to examine a large national cohort of adults with TSC, and to describe the clinical characteristics of these adults and the nature of the multidisciplinary care that they receive.

Methods: Six Canadian medical centers collaborated in this study.

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Background: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy.

Orbitofrontal epilepsy: Case series and review of literature.

Background: Orbitofrontal epilepsy (OFE) is less known and is poorly characterized in comparison with temporal lobe epilepsy, partly because it is rare and possibly because it is unrecognized and therefore underestimated.

Objective: This paper aimed to better characterize seizure semiology, presurgical findings, and surgical outcomes in patients with OFE.

Methods: We retrospectively reviewed all confidently established OFE cases from six Canadian epilepsy monitoring units between 1988 and 2014, and in the literature between 1972 and 2017.

Propofol-related infusion syndrome heralding a mitochondrial disease: case report.

Propofol-related infusion syndrome (PRIS) is a rare but catastrophic complication of propofol use. It is clinically characterized by metabolic acidosis, rhabdomyolysis, arrhythmias, myocardial failure, renal failure, and hepatomegaly, and may lead to death. Some risk factors are associated with PRIS, namely young age, critical illness, high fat intake, catecholamine or steroid use, inborn error of fatty acid oxidation, propofol doses exceeding 4–5 mg/kg/hour, and duration of use exceeding 48 hours.

Characterization and correction of spectral distortions induced by microvibrations onboard the GOSAT Fourier transform spectrometer.

Microvibrations onboard greenhouse gases observing satellite (GOSAT) cause scan speed variations in the TANSO Fourier transform spectrometer. The associated periodic sampling errors generate ghost features in O2 A-band spectra, where surface pressure and aerosol properties are retrieved to determine the optical path through the atmosphere. A correction algorithm has been developed to re-compute the interferograms at equally spaced sampling intervals.