Andreja Avberšek
A5045876819- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Parkinson's Disease Mechanisms and Treatments
- Pharmacological Effects and Toxicity Studies
- Alzheimer's disease research and treatments
- Drug Transport and Resistance Mechanisms
- Neuroscience and Neuropharmacology Research
- Autism Spectrum Disorder Research
- Cardiac electrophysiology and arrhythmias
- Ion Transport and Channel Regulation
- Health Systems, Economic Evaluations, Quality of Life
- Genetic Associations and Epidemiology
- Botulinum Toxin and Related Neurological Disorders
- Dementia and Cognitive Impairment Research
- Parkinson's Disease and Spinal Disorders
- Muscle activation and electromyography studies
- Diabetic Foot Ulcer Assessment and Management
- Neurological disorders and treatments
- Osteoarthritis Treatment and Mechanisms
- Neuroinflammation and Neurodegeneration Mechanisms
- Ion channel regulation and function
- RNA Interference and Gene Delivery
- Neurogenesis and neuroplasticity mechanisms
- Nuclear Receptors and Signaling
Regeneron (United States)
2022-2024
University College London
2010-2023
National Hospital for Neurology and Neurosurgery
2010-2023
UCB Pharma (Belgium)
2018-2023
Broad Institute
2021
Epilepsy Research UK
2010-2020
Epilepsy Society
2015-2019
International League Against Epilepsy
2014-2017
UCL Biomedical Research Centre
2015
Wellcome Trust
2014
The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report genome-wide mega-analysis involving 15,212 individuals with epilepsy 29,677 controls, which reveals 16 significant loci, of 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely genes at these majority in genetic generalized epilepsies. These diverse biological functions, including coding for ion-channel subunits, transcription factors...
Abstract Objective To study the effectiveness and tolerability of antiepileptic drugs (AEDs) commonly used in juvenile myoclonic epilepsy (JME). Methods People with JME were identified from a large database individuals epilepsy, which includes detailed retrospective information on AED use. We assessed secular changes use calculated rates response (12‐month seizure freedom) adverse drug reactions (ADRs) for five most common AEDs. Retention was modeled Cox proportional hazards model. compared...
Abstract Aims The causes of distinct patterns reduced cortical thickness in the common human epilepsies, detectable on neuroimaging and with important clinical consequences, are unknown. We investigated underlying mechanisms thinning using a systems‐level analysis. Methods Imaging‐based structural maps from large‐scale epilepsy study were overlaid highly spatially resolved brain gene expression data Allen Human Brain Atlas. Cell‐type deconvolution, differential analysis cell‐type enrichment...
Parkinson's disease (PD) is a highly heterogeneous both with respect to arising symptoms and its progression over time. This hampers the design of modifying trials for PD as treatments which would potentially show efficacy in specific patient subgroups could be considered ineffective trial cohort. Establishing clusters patients based on their patterns help disentangle exhibited heterogeneity, highlight clinical differences among subgroups, identify biological pathways molecular players...
Abstract Human genetic studies of smoking behavior have been thus far largely limited to common variants. Studying rare coding variants has the potential identify drug targets. We performed an exome-wide association study phenotypes in up 749,459 individuals and discovered a protective CHRNB2 , encoding β2 subunit α4β2 nicotine acetylcholine receptor. Rare predicted loss-of-function likely deleterious missense aggregate were associated with 35% decreased odds for heavily (odds ratio (OR) =...
To characterize, among European and Han Chinese populations, the genetic predictors of maculopapular exanthema (MPE), a cutaneous adverse drug reaction common to antiepileptic drugs.
Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use term 'alternating hemiplegia'. The characterized early-onset, recurrent, often alternating, hemiplegic episodes; seizures non-paroxysmal neurological features also occur. Dysautonomia occur during or isolation. Premature mortality can this patient group not fully explained. Preventable...
Aim: Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers response specific antiepileptic drugs (AEDs) generalized epilepsies (GGE). Materials & methods: conducted genome-wide association study (GWAS) of 3.3 million autosomal SNPs 893 European subjects with GGE - responsive or nonresponsive lamotrigine, levetiracetam and valproic acid. Results: Our GWAS AED revealed suggestive evidence for at 29 genomic loci (p <10-5) but no significant...
Abstract Objective Drug resistance is a major concern in the treatment of individuals with epilepsy. No genetic markers for to individual antiseizure medication (ASM) have yet been identified. We aimed identify role rare variants drug three common ASMs: levetiracetam (LEV), lamotrigine (LTG), and valproic acid (VPA). Methods A cohort 1622 European descent epilepsy was deeply phenotyped underwent whole exome sequencing (WES), comprising 575 taking LEV, 826 LTG, 782 VPA. performed gene‐ gene...
Abstract Objective Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines evidence indicating a role NR2B subunits N‐methyl‐D‐aspartate (NMDA) receptor onset spams in ISS patients, prompted us test radiprodil, negative allosteric modulator preclinical seizure models infants with ISS. Methods Radiprodil has been tested three models, including pentylenetetrazole‐induced...
Summary Objective Mesial temporal lobe epilepsy with hippocampal sclerosis ( MTLE ‐ HS ) is a common syndrome that often poorly controlled by antiepileptic drug AED treatment. Comparative effectiveness studies in this condition are lacking. We report retention, efficacy, and tolerability cohort of patients . Methods Clinical data were collected from European database epilepsy. estimated 12‐month seizure freedom, adverse reaction ADR rates for the 10 most commonly used s Results Seven hundred...
Abstract Background Genetic‐driven deregulation of the amyloid pathway and overproduction downstream amyloid‐β are known to cause early‐onset Alzheimer’s disease (EOAD) 1 . ALN‐APP is an investigational intrathecally (IT) administered RNAi therapeutic designed reduce upstream intracellular extracellular precursor protein (APP) levels by lowering APP mRNA. As a result, we hypothesize that may alter cascade events result in neurodegeneration, potentially slowing, halting, or reversing...
Clinical and genetic predictors of response to antiepileptic drugs (AEDs) are largely unknown. We examined lacosamide in a real-world clinical setting.We tested the association with treatment using regression modeling cohort people refractory epilepsy. Genetic assessment for was conducted via genome-wide studies exome studies, comprising 281 candidate genes.Most patients (479/483) were treated LCM addition other AEDs. Our results corroborate previous findings that generalized epilepsy (GGE)...
Abstract Better drugs are needed for common epilepsies. Drug repurposing offers the potential of significant savings in time and cost developing new treatments. In order to select best candidate drug(s) repurpose a disease, it is desirable predict relative clinical efficacy that will have against disease. Common epilepsy can be divided into different types syndromes. Different antiseizure medications most effective syndromes epilepsy. For predictions antiepileptic clinically translatable,...
Gait is impaired in musculoskeletal conditions, such as knee arthropathy. analysis used clinical practice to inform diagnosis and monitor disease progression or intervention response. However, gait relies on subjective visual observation of walking objective has not been possible within settings due the expensive equipment, large-scale facilities, highly trained staff required. Relatively low-cost wearable digital insoles may offer a solution these challenges. In this work, we demonstrate...
Abstract The common human epilepsies are associated with distinct patterns of reduced cortical thickness, detectable on neuroimaging, important clinical consequences. To explore underlying mechanisms, we layered MRI-based structural maps from a large-scale epilepsy neuroimaging study onto highly spatially-resolved brain gene expression data, identifying >2,500 genes overexpressed in regions compared to relatively-protected regions. resulting set differentially-expressed shows enrichment...
Progressive supranuclear palsy (PSP) is a rare, relentlessly progressive, ultimately fatal neurodegenerative brain disease. The objective of this study was to assess the burden PSP on patients, caregivers, and healthcare systems by phenotype. Data were drawn from Adelphi Disease Specific Programme™, cross-sectional neurologists people living with in United States America, France, Germany, Italy, Spain, Kingdom. All reported phenotype included. for 242 patients (mean age: 70.2 years, 58%...
Abstract Rasmussen's encephalitis is a rare, chronic inflammatory disorder of unknown cause, characterised by drug‐resistant focal epilepsy that may rarely present in adolescence or adulthood. We case with prominent recurrent fluctuation symptoms and well‐documented fluctuating changes on MRI, adding to the spectrum diversity encephalitis.
The Earable device is a behind-the-ear wearable originally developed to measure cognitive function. Since measures electroencephalography (EEG), electromyography (EMG), and electrooculography (EOG), it may also have the potential objectively quantify facial muscle eye movement activities relevant in assessment of neuromuscular disorders. As an initial step developing digital disorders, pilot study was conducted determine whether could be utilized movements intended representative Performance...