The recoding of genetic information through RNA editing contributes to proteomic diversity, but the extent and significance of RNA editing in disease is poorly understood. In particular, few studies have investigated the relationship between RNA editing and disease at a genome-wide level. Here, we developed a framework for the genome-wide detection of RNA sites that are differentially edited in...

Currently, a relevant proportion of all histopathologically proven focal cortical dysplasia (FCD) escape visual detection; this shows the need for additional improvements in analyzing MRI data. A positive MRI is still the strongest prognostic factor for postoperative freedom of seizures. Among several post-processing methods voxel-based morphometry (VBM) of T1- and T2-weighted sequences and T2 ...

Advanced variant detection in genes underlying risk of sudden unexpected death in epilepsy (SUDEP) can uncover extensive epistatic complexity and improve diagnostic accuracy of epilepsy-related mortality. However, the sensitivity and clinical utility of diagnostic panels based solely on established cardiac arrhythmia genes in the molecular autopsy of SUDEP is unknown. We applied the established...

Machine learning is an expanding research area. Its main application in the medical field and particularly detection of epilepsy epileptic seizures through electroencephalographic signals (EEG). It aims to design intelligent framework that enables immediate diagnosis this disease without neurological consultation thus saves lives patients by detecting warning them before it happens. However, as...

BACKGROUND Differential diagnosis between syncope and epilepsy in patients with transient loss of consciousness of uncertain etiology is still unclear. Thus, the aim of the present work is to evaluate the prevalence of syncope in patients with "possible" or "drug-resistant" epilepsy. METHODS The Overlap between Epilepsy and SYncope Study (OESYS) is a multicenter prospective observational stud...

Epilepsy is a chronic neurological condition that affects approximately 70 million people worldwide. Characterised by sudden bursts of excess electricity in the brain, manifesting as seizures, epilepsy is still not well understood when compared with other neurological disorders. Seizures often happen unexpectedly and attempting to predict them has been a research topic for the last 30 years. El...

objective epilepsy occurs with a yearly incidence of 40 per 100,000 children, of which more than 25% are resistant to drug therapy. epilepsy may occur in autoimmune diseases like lupus, celiac disease and myasthenia gravis. in this study, the relationship between celiac disease and refractory epilepsy was evaluated in children with idiopathic epilepsy. material & methods hundred-fifty-five chil...

There is still no medical cure for epilepsy. Clinical epileptology is in need of a "paradigm shift" when it comes to the continuing development of therapeutics. An important first step in this conceptual evolution is differentiating between the notions of ictogenesis and epileptogenesis. All traditional therapeutics are anti-ictogenic, not antiepileptogenic. The future of antiepileptic drug dev...

Epilepsy is a neurological disorder characterized by an increased predisposition for seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses a group of disorders with diverse aetiologies and outcomes. A genetic basis for epilepsy syndromes has been postulated for several decades, with several mutations in specific genes identified that have increased our u...

Children with temporal lobe epilepsy frequently suffer memory deficits, often marked in face processing. To determine the neural correlates of this dysfunction, we investigated face processing in adolescents with intractable epilepsy compared to typically developing controls. The M170 and M220 MEG event-related fields (ERFs) were recorded while the adolescents completed an n-back task on blocks...