News

New research published in Epilepsia, a journal of the International League Against Epilepsy (ILAE), indicates that wristband devices may improve the detection and characterization of seizures in patients with epilepsy. In their attempts to develop a better monitoring method, Giulia Regalia, PhD and Francesco Onorati, PhD, of Empatica Inc. in Milan, Italy and Cambridge, Massachusetts, and their colleagues examined the potential of automated, wearable systems to detect and characterize convulsive epileptic seizures. The researchers used three different wristbands to record two signals -- called electrodermal activity and accelerometer signals -- that usually exhibit marked changes upon the...

This largest whole-genome sequencing study on epilepsy was piloted by Jacques Michaud, Pediatrician at CHU Sainte-Justine and Professor of Pediatrics and Neuroscience at the Faculty of Medicine of Université de Montreal and his colleagues, Elsa Rossignol and Patrick Cossette of Universite de Montréal and Berge Minassian of the University of Toronto.  The team identified eight new genes involved in this type of epilepsy thanks to their use of whole-genome sequencing, which had never been done before in an epileptic study of this scope. The results of their study were recently published in the American Journal of Human Genetics. The...

In a study published in Neonatology on Oct. 13, 2017, researchers from George Washington University, Washington, DC using newborn piglet models exposed to hypoxia-ischemia studied the ffect of standard cooling therapy (therapeutic hypothermia) alone and in combination with a selective Src kinase inhibitor, PP2, that blocks a regulatory enzyme of apoptosis (cell death). PP2 is a substance that has frequently been used in cancer research as a "selective" inhibitor for Src-family kinases. This study is the first to test the benefits of blocking this enzyme in reducing the neurological damage caused by brain hypoxia-ischemia. A Src kinase inhibitor...

 The International Child Neurology Association is pleased to announce the names of those selected to receive the ICNA 2018 Awards at the 15th International Child Neurology Congress to be held in Mumbai, India November 15-18, 2018. Helen Cross, United Kingdom  Frank Ford Award 2018 Professor Helen Cross is The Prince of Wales's Chair...

In an article published in the Journal of Neuroscience Prof. John Chatham, of the Department of Pathology at the University of Alabama at Birmingham, and colleagues report that increasing O-GlcNAcylation levels in brain cells using the dietary supplement "glucosamine" widely used as a supplement to help reduce pain in osteoarthritis and other conditions was found to reduce reduce neural excitability in rodents. The researchers had in a previous study shown that increases in protein O-GlcNAcylation are associated with a reduction in the strength of synapses in the hippocampus of the brain. This synaptic dampening effect on glutamatergic networks suggests that increasing...

In new research published in Neuron this week researchers from Brown University in Providence, RI suggests that disruption of  the circadian rhythm protein CLOCK alters cortical circuits and may lead to generation of focal epilepsy.  Dr. Liu and her colleagues used resected brain tissue from epilepsy surgery for focal cortical dyplasias and analysed the  tissue's transcriptome, or a survey of the messenger RNA (mRNA) in any given population of cells. They used adjacent healthy tissue as controls.The researchers were looking at differences between healthy and epileptogenic tissue and to their surprise found that  there was a decrease in the expression of mRNA coding...

In a paper just published online in the journal The Lancet, Craig McDonald and colleagues at 53 study sites in 18 countries describe the clinical benefit of using the drug ataluren for a certain group of patients carrying a specific "nonsense mutation" for Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is a progressive and life-limiting X-linked recessive disorder caused by mutations in the DMD gene that result in reduced or absent dystrophin production. Dystrophin is part of the dystrophin–glycoprotein complex, which acts as a scaffold between the actin cytoskeleton and the extracellular matrix and, as such, maintains...

 At the Amsterdam ICNC in May 2016 interested members of the ICNA met to discuss a way forward to provide support for trainees and newly qualified child neurologists (within 5 years) Summary of key points raised at this meeting were: Education Direction of how to learn and what to learn for trainees Educational meetings – especially focused on-site educational meetings Research How to put a grant together (Plan a symposium at the next ICNC2018 on this) Training Support from the EB with guidance on projects – developing viable protocols...

 Researchers at Children's Hospital of Philadelphia (CHOP) have pinpointed variants in the WDR26 gene to a rare syndrome characterized by intellectual disability, seizures, an abnormal gait and distinctive facial features. In a study published in the American Journal of Human Genetics Deardorff, first author Cara M. Skraban, MD, also of CHOP, and co-authors from medical centers in six countries reported on 15 individuals now known to have this recognizable syndrome. Prior to this it was not even listed in some of the most commonly used databases. The affected individuals ranged from two years old to 34 years old. All the patients had...

The International Child Neurology Association (ICNA) is deeply saddened to hear the passing of Isabelle Rapin, MD. Dr Rapin, a true giant in the field of child neurology has helped found the International Child Neurology Association and has been a staunch supporter of its activities and ICNApedia all her life. Dr Rapin was a member of the first executive board of the ICNA (1973–1975) and Chairman of the Program Committee for the first ICNA Congress October 6–10, 1975 held in Toronto.She was also the recipient of the ICNA Frank R. Ford Award in 1990 and...