Search Results - "John C, McHugh"

Transfer Learning for the Identification of Paediatric EEGs With Interictal Epileptiform Abnormalities by Wei, Lan, Mchugh, John C., Mooney, Catherine

“…EEG is a test that helps in the clinical diagnosis of epilepsy. Epilepsy diagnosis is facilitated by establishing the presence of interictal epileptiform…”
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Outcome Measurement after Vagal Nerve Stimulation Therapy: Proposal of a New Classification by McHugh, John C., Singh, Harsh W., Phillips, Jack, Murphy, Kevin, Doherty, Colin P., Delanty, Norman

“…Purpose: Vagal nerve stimulation (VNS) is an adjunctive palliative therapy for refractory epilepsy. Effects of treatment are varied and some, such as the use…”
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Examining the effects of age, sex, and body mass index on normative median motor nerve excitability measurements by McHugh, John C, Reilly, Richard B, Connolly, Sean

“…Highlights ► Evidence for biophysical differences between male and female motor axons. ► Properties mediated by the nodal KCNQ channel are enhanced in females…”
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Does specificity of electrodiagnostic test referrals predict test outcome in children? by McHugh, John C., O'Flaherty, Eileen, Daly, Nicole

“…Introduction/Aims Electrodiagnostic testing (EDX) is important in evaluation of pediatric neuromuscular disease. Non‐specific referrals have emerged as a…”
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EEG Availability in the Intensive Care Setting: A Multicentre Study by MacDarby, Laura, Healy, Martina, McHugh, John C.

“…Sample Population A total of 170 specialists from 21 countries were contacted; 65 respondents from 17 countries completed the survey, representing a 38%…”
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Measuring the effects of pre-test probability on out-patient first EEG investigation in children – A guide to evidence-based EEG triage in a pandemic by McHugh, John C., Daly, Nicole, Colfer, Ailish

“…•Algorithmic Triage of EEG referrals predicts epileptiform yield in children.•Epileptiform abnormality is 2–3 times more likely in high priority referrals.•Our…”
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Amplitude integrated electroencephalography – Reference values in children aged 2 months to 16 years by MacDarby, Laura J., Healy, Martina, Curley, Gerard, McHugh, John C.

“…Aim Amplitude integrated electroencephalography (aEEG) is a bedside neuromonitoring tool, standard within neonatal critical care provision. Its application in…”
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EEG in the Pediatric Intensive Care Unit: An Irish Experience by MacDarby, Laura, Healy, Martina, Curley, Gerard, McHugh, John C.

“…INTRODUCTION:Evidence for continuous EEG monitoring in the pediatric intensive care unit (PICU) is increasing. However, 24/7 access to EEG is not routinely…”
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Late-Onset Tay-Sachs (LOTS) disease presenting with a neuromuscular phenotype – a case series by Sarah, Fullam, Zara, Togher, Alan, Power, John C, McHugh, Sean, O’Dowd, Aisling, Ryan, Stela, Lefter, Sean, Connolly, Sinead M, Murphy

“…BackgroundTay-Sachs disease is a rare, and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in ß-Hexosaminidase A (HEX A) leads to…”
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Late‐onset Tay−Sachs disease presenting with a neuromuscular phenotype—a case series by Fullam, Sarah, Togher, Zara, Power, Alan, Kennelly, Laura, McHugh, John C., O'Dowd, Sean, Tubridy, Niall, Hardiman, Orla, Costigan, Donal, Ryan, Aisling, Lefter, Stela, Connolly, Sean, Murphy, Sinead M.

“…Background and purpose Tay−Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in β‐hexosaminidase leads to…”
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Epidemiology and classification of epilepsy: gender comparisons by McHugh, John C, Delanty, Norman

“…Epilepsy is a common disease. The cumulative lifetime risks for epilepsy and for any unprovoked seizure are 3.1% and 4.1%, respectively, in industrialized…”
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Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype by Record, Christopher J, O'Connor, Antoinette, Verbeek, Nienke E, van Rheenen, Wouter, Zamba Papanicolaou, Eleni, Peric, Stojan, Ligthart, Peter C, Skorupinska, Mariola, van Binsbergen, Ellen, Campeau, Philippe M, Ivanovic, Vukan, Hennigan, Brian, McHugh, John C, Blake, Julian C, Murakami, Yoshiko, Laura, Matilde, Murphy, Sinéad M, Reilly, Mary M

“…Biallelic variants in phosphatidylinositol glycan anchor biosynthesis, class G (PIGG) cause hypotonia, intellectual disability, seizures, and cerebellar…”
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Amplitude Integrated Electroencephalography: Simulated Assessment of Neonatal Seizure Detection in PICU Patients by MacDarby, Laura J, Byrne, Lauren K, O'Brien, Emily T, Curley, Gerard F, Healy, Martina, McHugh, John C

“…Amplitude integrated electroencephalography (aEEG) is a mainstay of care in neonatal ICUs; however, knowledge gaps exist in relation to its accuracy for…”
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Assessing neuromuscular junction stability from stimulated EMG in children by Pitt, Matthew C, Mchugh, John C, Deeb, Jacquie, Smith, Ralph A

“…Highlights • Stimulated concentric needle electrode-jitter was recorded in 878 children, of whom 106 had neuromuscular junction disorders. • The technique is…”
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Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort by Bogdanova-Mihaylova, Petya, Chen, Hongying, Plapp, Helena Maria, Gorman, Ciara, Alexander, Michael D., McHugh, John C., Moran, Sharon, Early, Anne, Cassidy, Lorraine, Lynch, Timothy, Murphy, Sinéad M., Walsh, Richard A.

“…Background Mutations in SPG7 are increasingly identified as a common cause of spastic ataxia. We describe a cohort of Irish patients with recessive SPG7-…”
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Correction to: Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort by Bogdanova-Mihaylova, Petya, Chen, Hongying, Plapp, Helena Maria, Gorman, Ciara, Alexander, Michael D., McHugh, John C., Moran, Sharon, Early, Anne, Cassidy, Lorraine, Lynch, Timothy, Murphy, Sinéad M., Walsh, Richard A.

“…The original version of this article unfortunately contained a mistake…”
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Correction and transformation of normative neurophysiological data: Is there added value in the diagnosis of distal symmetrical peripheral neuropathy? by Mchugh, John C., Connolly, Sean

“…Introduction: Despite theoretical advantages, the practical impact of mathematical correction of normative electrodiagnostic data is poorly quantified…”
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DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children by Klein, Andrea, Pitt, Matthew C, McHugh, John C, Niks, Erik H, Sewry, Caroline A, Phadke, Rahul, Feng, Lucy, Manzur, Adnan Y, Tirupathi, Sandya, DeVile, Catherine, Jayawant, Sandeep, Finlayson, Sarah, Palace, Jacqueline, Muntoni, Francesco, Beeson, David, Robb, Stephanie A

“…Abstract Mutations in DOK7 are a common cause of congenital myasthenia. Treatment with ephedrine or salbutamol is effective, but diagnosis is often delayed…”
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GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma by McHugh, John C., Murray, Brian, Renganathan, Radhakrishnan, Connolly, Sean, Lynch, Tim

“…Stiff person syndrome (SPS) is an unusual cause of muscle rigidity and spasms. It is believed to have an autoimmune pathogenesis and is associated with…”
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Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation by McHugh, John C., Lonergan, Roisin, Howley, Rachel, O'Rourke, Killian, Taylor, Robert W., Farrell, Michael, Hutchinson, Michael, Connolly, Sean

“…Two siblings who developed fifth‐decade‐onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the…”
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