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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...

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...

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...

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. ...

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...

SPRITAM (levetiracetam) has been approved in the form of a dissolvable pill for the treatment of seizures among people with epilepsy. Each year, around 150,000 people in the US are diagnosed with epilepsy. Of the 2.9 million people living with the condition, around 460,000 are children.A 2002 study published in the journal Epilepsy and Behavior found that 71% of epilepsy patients reported forgetting, missing or skipping a dose of anti-seizure medication at some point. Almost half of these patients reported having a seizure after their missed dose. The team at Aprecia Pharmaceuticals used...

Stimulant medications for attention-deficit/hyperactivity disorder (ADHD) cause sleep problems among the children who take them, a new study from the University of Nebraska-Lincoln concludes. The study addresses decades of conflicting opinions and evidence about the medications' effect on sleep. In a "meta-analysis,"published online Nov. 23 by the journal Pediatrics, the Nebraska researchers found children given the medicines take significantly longer to fall asleep, have poorer quality sleep and sleep for shorter periods. About one in 14 children and adolescents in the U.S. are diagnosed with ADHD, a chronic condition that includes attention...

Infants are starved of oxygen during difficult births. Children’s cognitive function is permanently damaged due to malnutrition or exposure to infections or toxins. Adults suffer from crippling depression or dementia. The breadth and complexity of these and other brain and nervous system disorders make them some of the most difficult conditions to diagnose and treat, especially in the developing world, where there are few resources. An NIH-led collaboration has studied these complex issues that occur across the lifespan and today published a supplement to the journal Nature that lays out a research strategy to address...

Roustem KhazipovThe excitatory and inhibitory actions regulated by neurotransmitters are responsible for brain activity. Glutamic acid mediates excitatory actions while GABA is inhibitory. However it has been known for nearly two decades that during development, GABA exerts a depolarizing action on immature neurons. However, at the network level the effects of GABA are complex involving both excitatory and inhibitory actions. A group of researchers from Kazan Federal University, Russia and Aix-Marseille University, France, has shown that the actions of GABA critically depend on the network state. They have found that although GABA depolarizes neurons at...