Publications

Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression.

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Quantification of substoichiometric modification reveals global tsRNA hypomodification, preferences for angiogenin-mediated tRNA cleavage, and idiosyncratic epitranscriptomes of human neuronal cell-lines.

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A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.

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Event-based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data.

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Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER.

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Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.

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Increased uptake of the P2X7 receptor radiotracer 18 F-JNJ-64413739 in the brain and peripheral organs according to the severity of status epilepticus in male mice.

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Modeling native and seeded Synuclein aggregation and related cellular dysfunctions in dopaminergic neurons derived by a new set of isogenic iPSC lines with SNCA multiplications.

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The role of common genetic variation in presumed monogenic epilepsies.

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Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease: an international survey.

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Evaluation of policies and practices to support safe and appropriate analgesic and sedative prescribing: The CDRx (controlled drug prescribing) protocol.

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The population genomic legacy of the second plague pandemic.

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A companion to the preclinical common data elements for proteomics, lipidomics, and metabolomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force.

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A companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force.

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Transdiagnostic inflammatory subgroups among psychiatric disorders and their relevance to role functioning: a nested case-control study of the ALSPAC cohort.

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Increased expression of the ATP-gated P2X7 receptor reduces responsiveness to anti-convulsants during status epilepticus in mice.

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Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene.

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Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.

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Enhancing arginase 2 expression using target site blockers as a strategy to modulate macrophage phenotype.

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AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome.

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Modelling α-Synuclein Aggregation and Neurodegeneration with Fibril Seeds in Primary Cultures of Mouse Dopaminergic Neurons.

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Association between social deprivation and incidence of first seizures and epilepsy: A prospective population-based cohort.

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Investigation of MicroRNA-134 as a Target against Seizures and SUDEP in a Mouse Model of Dravet Syndrome.

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Expert Perspective: Who May Benefit Most From the New Ultra Long-Term Subcutaneous EEG Monitoring?

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Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome.

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A retrospective study of the correlation between duration of monitoring in the epilepsy monitoring unit and diagnostic yield.

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Sturge-Weber syndrome: Case report, literature review and proposed pregnancy care plan.

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Electrochemiluminescent detection of epilepsy biomarker miR-134 using a metal complex light switch.

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Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.

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BICS01 Mediates Reversible Anti-seizure Effects in Brain Slice Models of Epilepsy.

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BOK controls ER proteostasis and physiological ER stress responses in neurons.

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A Clinical Decision Support System for the Prediction of Quality of Life in ALS.

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Concussion susceptibility is mediated by spreading depolarization-induced neurovascular dysfunction.

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Fifteen-minute consultation: Diagnosing serious pathology in children with headaches presenting to the emergency department.

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Whole exome sequencing studies in epilepsy: A deep analysis of the published literature.

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Parenting a newborn baby during the COVID-19 pandemic: a qualitative survey.

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MicroRNA inhibition using antimiRs in acute human brain tissue sections.

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Beyond Seizure Control: Treating Comorbidities in Epilepsy via Targeting of the P2X7 Receptor.

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Glutamate NMDA Receptor Antagonists with Relevance to Schizophrenia: A Review of Zebrafish Behavioral Studies.

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Tuberous Sclerosis: A Rare Disease with an Orphan Complex.

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Mechanisms and mathematical modeling of ROS production by the mitochondrial electron transport chain.

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Hypoglycaemic events resembling focal seizures -A case report and literature review.

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Germline mosaicism in a family with MBD5 haploinsufficiency.

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Epigenetic genes and epilepsy – emerging mechanisms and clinical applications.

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Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.

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KBG syndrome mimicking genetic generalized epilepsy.

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Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.

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Genomic analysis of “microphenotypes” in epilepsy.

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Immunohistochemical Analysis of Tight Junction Proteins.

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Genomics in the presurgical epilepsy evaluation.

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Acetazolamide: Old drug, new evidence?

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Purinergic Signalling and Inflammation-Related Diseases.

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A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.

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Microvascular stabilization via blood-brain barrier regulation prevents seizure activity

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Expert Perspective: Who May Benefit Most From the New Ultra Long-Term Subcutaneous EEG Monitoring?

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Whole exome sequencing studies in epilepsy: A deep analysis of the published literature

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BICS01 Mediates Reversible Anti-seizure Effects in Brain Slice Models of Epilepsy

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Inherent P2X7 Receptors Regulate Macrophage Functions during Inflammatory Diseases

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Increased expression of the ATP-gated P2X7 receptor reduces responsiveness to anti-convulsants during status epilepticus in mice

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Biomaterial and Therapeutic Approaches for the Manipulation of Macrophage Phenotype in Peripheral and Central Nerve Repair

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Concussion susceptibility is mediated by spreading depolarization-induced neurovascular dysfunction

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Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions

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Generation and characterization of three induced pluripotent stem cell lines (NUIGi046-A, NUIGi046-B, NUIGi046-C) from a 51-year-old healthy individual

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International Recommendations for the Management of Adults Treated With Ketogenic Diet Therapies

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Hypoglycaemic events resembling focal seizures -A case report and literature review

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Epilepsy in the mTORopathies: opportunities for precision medicine

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Circulating P2X7 Receptor Signaling Components as Diagnostic Biomarkers for Temporal Lobe Epilepsy

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Genomic Analysis of “Microphenotypes” in Epilepsy

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Novel Point-of-Care Diagnostic Method for Neonatal Encephalopathy Using Purine Nucleosides

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A Road Map for Remote Digital Health Technology for Motor Neuron Disease

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NRXN1α +/- is associated with increased excitability in ASD iPSC-derived neurons

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Concordance between PCR-based extraction-free saliva and nasopharyngeal swabs for SARS-CoV-2 testing

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Causes and classification of first unprovoked seizures and newly-diagnosed epilepsy in a defined geographical area- an all-comers analysis

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tRNA-derived fragments: A new class of non-coding RNA with key roles in nervous system function and dysfunction

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tsRNAsearch: A pipeline for the identification of tRNA and ncRNA fragments from small RNA-sequencing data

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Impact of the COVID-19 pandemic on people with epilepsy: Findings from the Brazilian arm of the COV-E study

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Exploring the prevalence and profile of epilepsy across Europe using a standard retrospective chart review: Challenges and opportunities

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IgG 1 pan-neurofascin antibodies identify a severe yet treatable neuropathy with a high mortality

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A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

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Progressive Mitochondrial SOD1 G93A Accumulation Causes Severe Structural, Metabolic and Functional Aberrations through OPA1 Down-Regulation in a Mouse Model of Amyotrophic Lateral Sclerosis

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Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study

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Neuroprotective Effect of Taurine against Cell Death, Glial Changes, and Neuronal Loss in the Cerebellum of Rats Exposed to Chronic-Recurrent Neuroinflammation Induced by LPS

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Challenging the Established Order: Innovating Clinical Trials for Amyotrophic Lateral Sclerosis

Democratizing epilepsy care: Utility and usability of an electronic patient portal

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Targeting Neuroinflammation via Purinergic P2 Receptors for Disease Modification in Drug-Refractory Epilepsy

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Post-ictal psychosis in epilepsy: A clinico-genetic study

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Predictive modelling of hypoxic ischaemic encephalopathy risk following perinatal asphyxia

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Democratizing epilepsy care: Utility and usability of an electronic patient portal

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Zonisamide safety in pregnancy: Data from the UK and Ireland epilepsy and pregnancy register

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Stick or twist: Everolimus for seizures in tuberous sclerosis complex during the COVID-19 pandemic

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tRNA-derived fragments: A new class of non-coding RNA with key roles in nervous system function and dysfunction

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Biosensors Designed for Clinical Applications

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Genome-Wide Association Study Identifies Risk Loci for Cluster Headache

Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications

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ATP and adenosine—Two players in the control of seizures and epilepsy development

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Regulatory Mechanisms of the RNA Modification m 6 A and Significance in Brain Function in Health and Disease

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Computed tomography and emergency department frequency in homeless patients with seizures

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Prediction of caregiver quality of life in amyotrophic lateral sclerosis using explainable machine learning

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Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications

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Precision therapy in the genetic epilepsies of childhood

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Wireless electrochemiluminescence at functionalised gold microparticles using 3D titanium electrode arrays

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Opportunities and challenges for microRNA-targeting therapeutics for epilepsy

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Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillation

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Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

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Reversible male infertility with valproate use: A review of the literature

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Neuronal cell-based high-throughput screen for enhancers of mitochondrial function reveals luteolin as a modulator of mitochondria-endoplasmic reticulum coupling

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Mitochondrial arginase-2 is essential for IL-10 metabolic reprogramming of inflammatory macrophages

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AMPK-regulated miRNA-210-3p is activated during ischaemic neuronal injury and modulates PI3K-p70S6K signalling

Ferrocene-Containing DNA Monolayers: Influence of Electrostatics on the Electron Transfer Dynamics

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Limitations of animal epilepsy research models: Can epileptic human tissue provide translational benefit?

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Discrete choice experiment for eliciting preference for health services for patients with ALS and their informal caregivers

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Climate change and epilepsy: Insights from clinical and basic science studies

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Systemic delivery of antagomirs during blood-brain barrier disruption is disease-modifying in experimental epilepsy

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Elevated blood purine levels as a biomarker of seizures and epilepsy

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Identification of clinically relevant biomarkers of epileptogenesis — a strategic roadmap

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Evaluating risk to people with epilepsy during the COVID-19 pandemic: Preliminary findings from the COV-E study

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Ictal asystole during long-term video-EEG; semiology, localization, and intervention

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The anatomy of electronic patient record ethics: a framework to guide design, development, implementation, and use

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Will RNA circles run rings around microRNA?

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Engineering Calcium Signaling of Astrocytes for Neural-Molecular Computing Logic Gates

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Security in Brain-Computer Interfaces: State-of-the-Art, Opportunities, and Future Challenges

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Coproducing health and well-being in partnership with patients, families, and healthcare providers: A qualitative study exploring the role of an epilepsy patient portal

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Characterization of the Expression of the ATP-Gated P2X7 Receptor Following Status Epilepticus and during Epilepsy Using a P2X7-EGFP Reporter Mouse

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Electrochemical Properties of Screen-Printed Carbon Nano-Onion Electrodes

Examination and diagnosis of electronic patient records and their associated ethics: a scoping literature review

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Analysis of the aetiology of epilepsy in 3,216 adult patients attending a tertiary referral center enabled by an electronic patient record

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Genetic deletion of microRNA-22 blunts the inflammatory transcriptional response to status epilepticus and exacerbates epilepsy in mice

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Genome-wide microRNA profiling of plasma from three different animal models identifies biomarkers of temporal lobe epilepsy

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P2X7 Receptor-Dependent microRNA Expression Profile in the Brain Following Status Epilepticus in Mice

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White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

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Temporally Altered miRNA Expression in a Piglet Model of Hypoxic Ischemic Brain Injury

TRICALS: creating a highway toward a cure

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Polyadenylation of mRNA as a novel regulatory mechanism of gene expression in temporal lobe epilepsy

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Location-specific reflex epilepsy: a novel reflex epilepsy phenotype

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A systems approach delivers a functional microRNA catalog and expanded targets for seizure suppression in temporal lobe epilepsy

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Incidence of first seizures, epilepsy, and seizure mimics in a geographically defined area

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MicroRNAs as regulators of brain function and targets for treatment of epilepsy

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Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

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Prevalence of N-Methyl-d-Aspartate Receptor antibody (NMDAR-Ab) encephalitis in patients with first episode psychosis and treatment resistant schizophrenia on clozapine, a population based study

The ENIGMA‐Epilepsy working group: Mapping disease from large data sets

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RCPCH Stroke in Childhood Guidelines: how well are these being followed?

Quantification of tRNA fragments by electrochemical direct detection in small volume biofluid samples

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Effectiveness and tolerability of adjunctive brivaracetam in patients with focal seizures: Second interim analysis of 6-month data from a prospective observational study in Europe

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Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

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Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force

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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

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Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

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Generation of twelve induced pluripotent stem cell lines from two healthy controls and two patients with sporadic amyotrophic lateral sclerosis

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SJS/TEN 2019: From science to translation

Angiogenin and tRNA fragments in Parkinson’s disease and neurodegeneration

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Testing association of rare genetic variants with resistance to three common antiseizure medications

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Could the 2017 ILAE and the four-dimensional epilepsy classifications be merged to a new “Integrated Epilepsy Classification”?

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Prediction of caregiver burden in amyotrophic lateral sclerosis: a machine learning approach using random forests applied to a cohort study

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Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)

Plasma microRNA levels in male and female children with cystic fibrosis

Differential Expression of the Metabotropic P2Y Receptor Family in the Cortex Following Status Epilepticus and Neuroprotection via P2Y 1 Antagonism in Mice

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Altered Biogenesis and MicroRNA Content of Hippocampal Exosomes Following Experimental Status Epilepticus

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The Role of Microglia in Neurodevelopmental Disorders and their Therapeutics

Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

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ATP Measurement in Cerebrospinal Fluid Using a Microplate Reader

Igniting intersectoral collaboration in chronic disease management: a participatory action research study on epilepsy care in Ireland

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Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)

Epigenetics and noncoding RNA: Recent developments and future therapeutic opportunities

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Imaging tripartite synapses using super-resolution microscopy

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years

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Exploring the genetic overlap between psychiatric illness and epilepsy: A review

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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

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Are patients ready for integrated person-centered care? A qualitative study of people with epilepsy in Ireland

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Elevated Plasma microRNA-206 Levels Predict Cognitive Decline and Progression to Dementia from Mild Cognitive Impairment

Proteins and microRNAs are differentially expressed in tear fluid from patients with Alzheimer’s disease

The Anti-inflammatory Compound Candesartan Cilexetil Improves Neurological Outcomes in a Mouse Model of Neonatal Hypoxia

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GABA Regulation of Burst Firing in Hippocampal Astrocyte Neural Circuit: A Biophysical Model

Vascular regression precedes motor neuron loss in the FUS (1-359) ALS mouse model

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Targeting microRNA-134 for seizure control and disease modification in epilepsy

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Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care

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Electrical stimulation of the ventral hippocampal commissure delays experimental epilepsy and is associated with altered microRNA expression

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Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy

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MicroRNAs as biomarkers and treatment targets in status epilepticus

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Elevation of plasma tRNA fragments precedes seizures in human epilepsy

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Context-Specific Switch from Anti- to Pro-epileptogenic Function of the P2Y1 Receptor in Experimental Epilepsy

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Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures

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A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

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De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years

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Profiling of Argonaute-2-loaded microRNAs in a mouse model of frontotemporal dementia with parkinsonism-17

MicroRNA-22 Controls Aberrant Neurogenesis and Changes in Neuronal Morphology After Status Epilepticus

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Regulation of P2X7 receptor expression and function in the brain

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Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients

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Discovery and validation of blood microRNAs as molecular biomarkers of epilepsy: Ways to close current knowledge gaps

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

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RNA-sequencing analysis of umbilical cord plasma microRNAs from healthy newborns

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Dual-center, dual-platform microRNA profiling identifies potential plasma biomarkers of adult temporal lobe epilepsy

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Bi-directional genetic modulation of GSK-3β exacerbates hippocampal neuropathology in experimental status epilepticus

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Eslicarbazepine acetate as monotherapy in clinical practice: Outcomes from Euro‐Esli

Spared CA1 pyramidal neuron function and hippocampal performance following antisense knockdown of microRNA‐134

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The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings

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Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer

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Haploinsufficient TNAP Mice Display Decreased Extracellular ATP Levels and Expression of Pannexin-1 Channels

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Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

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Defining external factors that determine neuronal survival, apoptosis and necrosis during excitotoxic injury using a high content screening imaging platform

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Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

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The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

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Psychiatric and psychosocial morbidity 1 year after epilepsy surgery

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