Handbook of Pediatric Electroencephalography by Veena Kander now on ICNApedia VLE

Role of circadian genes in the pathogenesis of Paediatric Focal Epilepsy

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 Chip Array technology. Studies in...
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Brief computerized screening can help detect cognitive changes in children with epilepsy

Research presented at the 2015 American Epilepsy Society Annual Meeting in Philadelphia shows that early detection of cognitive difficulties using a brief computerized cognitive screening may help improve delays in intervention. Cognitive problems and behavioural problems in epilepsy are frequent. Cognitive difficulties in children with epilepsy affect different domains, including memory, language, and executive function that occur during critical periods of development. However screening tools currently available do not adequately identify these children, resulting in a delay in intervention. In their study Megan E. Bone, of the University of Pittsburgh School of Medicine, and colleagues evaluated the feasibility of the brief...
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Gene therapy against intractable epilepsy: promising proof of concept study

Although novel treatment strategies based on the gene therapy approach for epilepsy has been encouraging, there is still a gap in demonstrating a proof-of-concept in a clinically relevant animal model and study design. In a study published in Neurobiology of Disease on Dec 1, 2015 researchers from Lund University in Sweden and colleagues at University of Copenhagen Denmark delivered genes for a signal substance "neuropeptide Y" and its receptor into the brain of test animals with post intrahippocampal kainate-induced status epilepticus (SE) model of chronic epilepsy, and succeeded in considerably reducing the number of epileptic seizures among the animals. The test has...
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De novo mutations in congenital heart disease and neurodevelopmental anomalies

In a study, published Dec. 4, 2015 in the journal Science, investigators from the Bench to Bassinet Program’s Pediatric Cardiac Genomics Consortium used exome sequencing to genetically evaluate 1,213 family trios composed of a child with congenital heart disease and the mother and father. Through this technique, which examines only the protein-coding regions of DNA, they found that children with moderate-to-severe congenital heart disease had a substantial number of "de novo" gene mutations. De novo mutations occur within egg, sperm, and fertilized cells, but are not part of the genetic makeup of the mother or father. Congenital heart disease (CHD) patients...
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Decanoic acid, not ketones, behind therapeutic effect of MCT ketogenic diet

The medium chain triglyceride(MCT) ketogenic diet is an established treatment for drug-resistant epilepsy that increases plasma levels of decanoic acid and ketones. The general assumption is that the diet’s antiepileptic effect is due to ketone production.However there is a poor correlation between serum ketones and seizure control. Recently decanoic acid within the MCT ketogenic diet has been shown to block seizures among people with epilepsy to a greater extent than medications currently used to treat the condition. Besides decanoic acid may even have fewer side effects.Indeed, in vitro, decanoic acid is more potent than valproic acid [a branched chain fatty acid...
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