Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE).
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research

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Conclusions: There are several ongoing efforts to use novel ablative therapies directed towards the brain. The recent development of techniques that allow for precise targeting, accurate delivery of thermal doses and real-time visualization of induced tissue damage during the procedure have resulted in novel techniques for cerebral ablation such as magnetic resonance-guided focused ultrasound or laser interstitial thermal therapy. However, older techniques such as radiofrequency thermal ablation or stereotactic radiosurgery still have a pivotal role in the management of a variety of neurological disorders. PMID: 315371...
Source: International Journal of Hyperthermia - Category: Internal Medicine Tags: Int J Hyperthermia Source Type: research
BACKGROUND: This systematic review of epilepsy mortality systematic reviews evaluates comparative risks, causes, and risk factors for all-cause mortality in people with epilepsy (PWE) to specifically establish the burden of epilepsy-related deaths. ...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Drowning, Suffocation Source Type: news
The authors regret the term “standardized coefficients (β)” should be replaced with “unstandardized coefficients (B)” in Table 5. The authors would like to apologise for any inconvenience caused. Language: en...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
AbstractObjectiveTo study the prevalence of epilepsy and Inter-ictal epileptiform discharges (IED) in children with Autism spectrum disorder (ASD) and Attention-deficit hyperactivity disorder (ADHD), and the factors associated with occurrence of epilepsy in these children.MethodsChildren between 6 and 12 y attending the Child Development Centre of a tertiary-care institute in India were evaluated for ASD and ADHD as per Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5). Childhood Autism Rating Scale was used to assess ASD severity,  and Conner’s Rating Scales were used to sub-classify ch...
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
ConclusionThe latency to the first unprovoked seizure was longer in patients with JE than controls. Regarding chronic epilepsy, three in four had structural abnormalities, and the long-term outcomes of post-encephalitic epilepsy following JE were poor. Surgery remains an option for drug-resistant epilepsy.
Source: Seizure - Category: Neurology Source Type: research
Authors: Nabil D, Benali R, Bereksi Reguig F Abstract Epileptic seizure (ES) is a neurological brain dysfunction. ES can be detected using the electroencephalogram (EEG) signal. However, visual inspection of ES using long-time EEG recordings is a difficult, time-consuming and a costly procedure. Thus, automatic epilepsy recognition is of primary importance. In this paper, a new method is proposed for automatic ES recognition using short-time EEG recordings. The method is based on first decomposing the EEG signals on sub-signals using discrete wavelet transform. Then, from the obtained sub-signals, different non-lin...
Source: Biomedizinische Technik/Biomedical Engineering - Category: Biomedical Engineering Tags: Biomed Tech (Berl) Source Type: research
Conclusions: Glomerular filtration rate was first found as an important covariate influencing MHD CL. A PPK model was established to estimate the individual MHD CL for adult patients taking OXC and may be applied for individualizing doses in the target population.
Source: Therapeutic Drug Monitoring - Category: Drugs & Pharmacology Tags: Original Article Source Type: research
Conclusions: We herein developed a PPK model to describe phenytoin concentrations after the intravenous administration of fosphenytoin. Age was identified as a significant covariate for CL.
Source: Therapeutic Drug Monitoring - Category: Drugs & Pharmacology Tags: Original Article Source Type: research
Publication date: November 2019Source: The Veterinary Journal, Volume 253Author(s): T. Gagliardo, G. Gandini, A. Gallucci, M. Menchetti, E. Bianchi, M.E. Turba, A. Cauduro, D.S. Corlazzoli, S. Gianni, M. Baroni, M. Bernardini, F. GentiliniAbstractEpilepsy is the most common chronic neurological disorder in dogs. Approximately 20–30% of dogs do not achieve satisfactory seizure control with two or more anti-epileptic drugs at appropriate dosages. This condition, defined as refractory epilepsy, is a multifactorial condition involving both acquired and genetic factors. The P glycoprotein might play and important role in ...
Source: The Veterinary Journal - Category: Veterinary Research Source Type: research
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