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.

A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11.

Idiopathic generalized epilepsy (IGE) has evidence of a strong genetic etiology. We conducted genomewide linkage analysis for genes responsible for familial IGE in French-Canadian pedigrees. Twenty families segregating autosomal dominant epilepsy were collected.

New epilepsy seizure at high altitude without signs of acute mountain sickness or high altitude cerebral edema.

Neurological disturbances may be present at high altitude independently of high altitude cerebral edema. We report here the case of a patient who experienced for the first time generalized seizures after spending a night at an altitude of 5200 m, with no preceding symptoms of acute mountain sickness. An initial CT scan performed 12 hours after his loss of consciousness and an MRI scan performed 2 months later were normal.

Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.

Background: Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different brain regions in different family members in the absence of detectable structural abnormalities. A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families.

Methods: We describe the clinical features and performed a linkage analysis in a Spanish kindred and in a third French-Canadian family distantly related to the original pedigrees.