Publications
2020
MicroRNAs as Regulators of Brain Function and Targets for Treatment of Epilepsy - PubMed
Seizures result from hypersynchronous, abnormal firing of neuronal populations and are the primary clinical symptom of the epilepsies. Brain tissue from animal models and patients with acquired forms of epilepsy commonly features selective neuronal loss, gliosis, inflammatory markers and microscopic ...
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) - PubMed
De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel K v 1.2, which is vital in regulating neuronal membrane ...
The Incidence of First Seizures, Epilepsy and Seizure Mimics in a Geographically Defined Area - PubMed
Application of the 2014 ILAE definition of epilepsy resulted in higher incidence of new diagnosis of epilepsy compared to the 1993 definition. The incidence of seizure mimics almost equals that of all first seizures. Seizures, epilepsy and seizure mimics represent a significant burden to healthcare ...
Igniting intersectoral collaboration in chronic disease management: a participatory action research study on epilepsy care in Ireland
Models of care developed to improve the lives of people with chronic diseases highlight integrated care as essential to meeting their needs and achieving person (patient)-centered care (PCC). Nevertheless, barriers to collaborative practice and siloed work environments persist.
Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects - Stephen F. Traynelis, Dennis Dlugos, David Henshall, Heather C. Mefford, Michael A. Rogawski, Kevin J. Staley, Penny A. Dacks, Vicky Whittemore, Annapurna Poduri, , 2020
Abstract The goals of Epilepsy Benchmark Area III involve identifying areas that are ripe for progress in terms of controlling seizures and patient symptoms in light of the most recent advances in both basic and clinical research. These goals were developed with an emphasis on potential new therapeutic strategies that will reduce seizure burden and improve quality of life for patients with epilepsy.
Plasma microRNA levels in male and female children with cystic fibrosis
A gender gap exists in cystic fibrosis (CF). Here we investigate whether plasma microRNA expression profiles differ between the sexes in CF children. MicroRNA expression was quantified in paediatric CF plasma (n = 12; six females; Age range:1-6; Median Age: 3; 9 p.Phe508del homo- or heterozygotes) using TaqMan OpenArray Human miRNA Panels.
Self-reported antiepilepsy medication adherence and its connection to perception of medication error.
Epilepsy Behav. 2020 Mar;104(Pt A):106896. doi: 10.1016/j.yebeh.2019.106896. Epub 2020 Jan 25.
Altered Biogenesis and MicroRNA Content of Hippocampal Exosomes Following Experimental Status Epilepticus
Repetitive or prolonged seizures (status epilepticus) can damage neurons within the hippocampus, trigger gliosis, and generate an enduring state of hyperexcitability. Recent studies have suggested that microvesicles including exosomes are released from brain cells following stimulation and tissue injury, conveying contents between cells including microRNAs (miRNAs).
Differential Expression of the Metabotropic P2Y Receptor Family in the Cortex Following Status Epilepticus and Neuroprotection via P2Y1 Antagonism in Mice
Purinergic signaling via P2 receptors is now widely accepted to play a critical role during increased states of hyperexcitability and seizure-induced pathology. In the setting of seizures and epilepsy, most attention has been paid to investigating the fast-acting ATP-gated P2X receptor family.
The Role of Microglia in Neurodevelopmental Disorders and their Therapeutics
Journal Name: Current Topics in Medicinal Chemistry Volume 20 , Issue 4 , 2020 Abstract: The development of new therapeutics is critically dependent on an understanding of the molecular pathways, the disruption of which results in neurological symptoms. Genetic and biomarker studies have highlighted immune signalling as a pathway that is impaired in patients with neurodevelopmental disorders (NDDs), and several studies on animal models of aberrant neurodevelopment have implicated microglia, the brain's immune cells, in the pathology of these diseases.
Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)
Hundreds of rare risk factors have been identified for ASD, however, the underlying causes for ~70% of sporadic cases are unknown. Sporadic ASD models are thus essential for validating phenotypic commonality and drug suitability to the majority of patients. Here, we derived induced pluripotent stem cells (iPSCs) from one sporadic ASD child and one paternal control, using non-integrating Sendai viral methods.
Prediction of caregiver burden in amyotrophic lateral sclerosis: a machine learning approach using random forests applied to a cohort study.
BMJ Open. 2020 Feb 28;10(2):e033109. doi: 10.1136/bmjopen-2019-033109.
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Epilepsia. 2020 Apr;61(4):657-666. doi: 10.1111/epi.16467. Epub 2020 Mar 6.
Angiogenin and tRNA fragments in Parkinson's disease and neurodegeneration
In this review, we summarise the evidence for a role of the ribonuclease angiogenin in the pathophysiology of neurodegenerative disorders, with a specific focus on Parkinson's disease (PD). Angiogenin is a stress-induced, secreted ribonuclease with both nuclear and cytosolic activities.
Could the 2017 ILAE and the four-dimensional epilepsy classifications be merged to a new "Integrated Epilepsy Classification"?
Seizure. 2020 Mar 5;78:31-37. doi: 10.1016/j.seizure.2020.02.018. [Epub ahead of print]
SJS/TEN 2019: From science to translation.
J Dermatol Sci. 2020 Mar 7. pii: S0923-1811(20)30064-5. doi: 10.1016/j.jdermsci.2020.02.003. [Epub ahead of print] Review
Generation of twelve induced pluripotent stem cell lines from two healthy controls and two patients with sporadic amyotrophic lateral sclerosis
The majority of amyotrophic lateral sclerosis are sporadic (sALS) with no familial history or known genetic association, therefore a large cohort of disease models are required to identify common mechanisms or to test therapeutic interventions.
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy.
Epileptic Disorders
Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force
Futuremedicine
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study