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The Mitochondrial European Educational Training (MEET) Network presents: From bench to bedside, and back: Patients MEET Researchers MEET Symposium 2016, Nijmegen, The Netherlands Free registration! Deadlines: December, 22, 2015. Here the official agenda and the registration link. FELLOWSHIPS: Please read all of the information carefully before you apply! The MEET Consortium offers 15 fellowships (covering travel, accommodation and subsistence costs) to attend the Symposium. Fellowships are addressed ONLY to patients or Representative of Patients’ organizations. Applicants for fellowships must submit their request together with a reference letter from Patients’ organization...

Children from low income environments appear to have a higher risk of neurological impairment than those from more economically secure circumstances, according to researchers at the National Institutes of Health and other institutions. This neurological impairment appears to be distinct from the risk of cognitive and emotional delays known to accompany early-life poverty. In most cases, the level of neurological impairment the researchers found would not be apparent to a casual observer. That level could, however, increase, the risk for childhood learning difficulties, attention deficit disorders and psychological conditions such as anxiety disorders and schizophrenia....

E-Rare-3 Call for Proposals 2016 for "Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases". The eighth E-Rare joint call for funding multilateral research projects on rare diseases (JTC2016) will be open on the 7 December 2015. The following 14 countries intend to participate in this call: Austria, Canada (including Quebec), France, Germany, Hungary, Israel, Italy, Latvia, Poland, Portugal, Romania, Spain, Switzerland, Turkey. The specific objective of this call is to promote the clinical and pre-clinical proof of concept for the potential application of medicinal products in...

Further underscoring the prenatal origins of Autism Spectrum Disorder (ASD), researchers at University of California, San Diego School of Medicine describe for the first time how abnormal gene activity in cell cycle networks that are known to control brain cell production may underlie abnormal early brain growth in the disorder. The findings are published online December 14 in Molecular Systems Biology. "These findings identify common genomic defects that help explain why there are abnormal numbers of brain cells in autism, why the brain grows abnormally too large or too small in some...

Douglas E. Crompton and colleagues from Northern Health in Melbourne looked at the demographic and clinical information on SUDEP cases from 2 major centers in Australia and performed whole exome sequencing to identify rare genetic variants in these patients. They compared genes with an increased prevalence of rare pathogenic variants in SUDEP patients with 2936 control exomes. The study findings were, presented at the 2015 American Epilepsy Society Annual Meeting in Philadelphia. For the present study they analysed whole exome sequences from 62 SUDEP cases. The mean age at epilepsy onset was...

According to data presented at the 2015 American Epilepsy Society Annual Meeting in Philadelphia seizure detection using multiple extracerebral biosignals specifically [HR], [SpO2] and electrodermal activity [EDA] results in improved accuracy compared with heart rate alone. Using 2 commercially available wrist-worn devices, Cogan and colleagues gathered HR, arterial oxygenation (SpO2), and EDA data from 20 patients electively admitted to an epilepsy-monitoring unit. Of these patients, 11 provided HR, SpO2, and EDA data on 24 seizures during 355 hours of data collection. In all 24 of the captured seizures HR increased by 15%...

Data presented at the 2015 American Epilepsy Society Annual Meeting in Philadelphia shows that sensitivity of the Brain Sentinel™ system for detection of GTCS is comparable to epileptologists reviewing vEEG recordings. The system, which collects continuous surface electromyography (sEMG) and audio data via a device strapped to the bicep, is currently under review by the FDA. The device algorithm continuously compares recorded surface EMG signals to the baseline sample of muscle activity. (GTC seizures are signalled with sustained activation of multiple frequency bands [30 to 40 Hz, 130 to 240 Hz, 300...

Results from open-label Expanded Access treatment programs from 16 centres presented at the 2015 American Epilepsy Society Annual Meeting in Philadelphia, show that Epidiolex, a pharmaceutical-grade, purified form of cannabidiol, is generally well-tolerated and is a promising treatment for treatment-resistant epilepsies. Epidiolex, manufactured by GW Pharma, is a highly-standardized, plant-derived form of cannabidiol (CBD), the most abundant non-psychoactive cannabinoid derived from the cannabis plant. Anecdotal reports and animal studies in multiple species and models have shown anticonvulsant efficacy for cannabidiol in intractable epilepsies including Dravet syndrome and Lennox-Gastaut syndrome. For the current...

In data was presented at the 2015 American Epilepsy Society Annual Meeting, Candace Myers, PhD, of the University of Washington, and colleagues have shown that targeted high throughput resequencing of genes in which a de novo mutation was previously been identified can help expand the phenotypic spectrum associated with these genes. They sought to expand on their previous study where they identified 329 de novo mutations in 305 genes when 264 trios (affected child and unaffected parents). For their current study the researchers performed targeted capture and high-throughput resequencing of 27 genes in which a...

According to research presented at the 2015 American Epilepsy Society annual meeting in Philadelphia, dysfunction of brain circuits in pediatric patients with focal epilepsy results from a significant reduction in Circadian Locomotor Output Cycles Kaput (Clock) expression. The researchers including Judy Liu MD PhD and her colleagues at the Children’s National Medical Center in Washington studied patients with focal epilepsy enrolled under their epilepsy surgery program. They used high-resolution 3t magnetic resonance imaging to determine epileptogenic foci and collected samples directly from the operating room for transcriptome analysis performed by microarray using Illumina® Gene Expression Bead...