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neonatal epilepsy

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https://www.readbyqxmd.com/read/29779984/decreasing-prevalence-and-severity-of-cerebral-palsy-in-norway-among-children-born-1999-to-2010-concomitant-with-improvements-in-perinatal-health
#1
Sandra Julsen Hollung, Torstein Vik, Stian Lydersen, Inger Johanne Bakken, Guro L Andersen
BACKGROUND: The aim of our study was to explore if the prevalence and clinical characteristics of cerebral palsy (CP), concomitant with perinatal health indicators in the general population, remained unchanged for children born in Norway between 1999 and 2010. METHODS: This national multi-register cohort study included 711 174 children recorded in the Medical Birth Registry of Norway. Among these, 707 916 were born alive, and 1664 had a validated diagnosis of CP recorded in the Cerebral Palsy Registry of Norway and/or the Norwegian Patient Registry...
May 8, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29775848/long-term-outcome-in-children-with-neonatal-seizures-a-tertiary-center-experience-in-cohort-of-168-patients
#2
Biljana Vucetic Tadic, Ruzica Kravljanac, Vlada Sretenovic, Vladislav Vukomanovic
PURPOSE: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). METHOD: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges...
May 15, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#3
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#4
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29763644/immunomodulatory-effect-of-celecoxib-on-hmgb1-tlr4-pathway-in-a-recurrent-seizures-model-in-immature-rats
#5
Mariana Morales-Sosa, Sandra Orozco-Suárez, AngélicaVega-García, Sara Caballero-Chacón, Iris A Feria-Romero
Epileptic seizures constitute an important problem in pediatric neurology during the developmental period. The frequency and nosological significance of seizures, as well as their association with epileptogenesis, may be related to underlying mechanisms such as neuroinflammation. Those mechanisms of response activate inflammatory molecules induced in the neurons, activated glial cells and endothelial cells via the key HMGB1/TLR4 pathway. In this study, the drug celecoxib (CCX) was used as a blocker of the cyclooxygenase 2 (COX-2) and HMGB1/TLR-4 pathways...
May 12, 2018: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/29760947/incorporating-epilepsy-genetics-into-clinical-practice-a-360%C3%A2-evaluation
#6
Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F Hughes, Ruth E Williams, Line H G Larsen, Qin Hao, Hans Atli Dahl, Rikke S Møller, Deb K Pal
We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset < 2 years; treatment resistant epilepsy; or familial epilepsy were referred for counseling and testing. We developed NGS panels, performing clinical interpretation with a multidisciplinary team...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29758444/yield-of-eeg-monitoring-in-children-with-developmental-disabilities-is-high
#7
Ali A Asadi-Pooya
PURPOSE: The purpose of this study was to investigate the yield of a 2-hour electroencephalography (EEG) monitoring (awake and sleep) in children with developmental disabilities and without any clinically apparent seizures. METHODS: In this retrospective study, I investigated all children below 9 years of age who had developmental disabilities and were referred to Shiraz Comprehensive Epilepsy center for electroencephalographic investigation from June 2017 until January 2018...
May 11, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29750802/severe-neonatal-hyperbilirubinemia-induces-temporal-and-occipital-lobe-seizures
#8
Lian Zhang
To examine the origin of seizures induced by severe neonatal hyperbilirubinemia, The EEG characteristics of seizures were analyzed in newborns with and without severe neonatal hyperbilirubinemia. Fisher's exact test was used to determine the specificity. In total, 931 patients had a total serum bilirubin (TSB) level of 340-425 μmol/L, only 2 of whom had seizures. Compared to patients with hyperbilirubinemia and a TSB level of 340-425 μmol/L, those with a TSB level >425 μmol/L had a significant risk of seizure (OR = 213...
2018: PloS One
https://www.readbyqxmd.com/read/29750358/a-population-based-cost-effectiveness-study-of-early-genetic-testing-in-severe-epilepsies-of-infancy
#9
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey
OBJECTIVE: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. METHODS: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29738885/regulation-of-seizure-induced-mecp2-ser421-phosphorylation-in-the-developing-brain
#10
Evan C Rosenberg, Jocelyn J Lippman-Bell, Marcus Handy, Samantha S Soldan, Sanjay Rakhade, Cristina Hilario-Gomez, Kaitlyn Folweiler, Leah Jacobs, Frances E Jensen
Neonatal seizures disrupt normal synaptic maturation and often lead to later-life epilepsy and cognitive deficits. During early life, the brain exhibits heightened synaptic plasticity, in part due to a developmental overabundance of CaV 1.2 L-type voltage gated calcium (Ca2+ ) channels (LT-VGCCs) and Ca2+ -permeable AMPARs (CP-AMPARs) lacking GluA2 subunits. We hypothesized that early-life seizures overactivate these channels, in turn dysregulating Ca2+ -dependent signaling pathways including that of methyl-CPG-binding protein 2 (MeCP2), a transcription factor implicated in the autism spectrum disorder (ASD) Rett Syndrome...
May 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29737274/antiepileptic-drug-monitoring-in-pregnancy-empire-a-double-blind-randomised-trial-on-effectiveness-and-acceptability-of-monitoring-strategies
#11
Shakila Thangaratinam, Nadine Marlin, Sian Newton, Annalise Weckesser, Manny Bagary, Lynette Greenhill, Rachel Rikunenko, Maria D'Amico, Ewelina Rogozińska, Andrew Kelso, Kelly Hard, Jamie Coleman, Ngawai Moss, Tracy Roberts, Lee Middleton, Julie Dodds, Angela Pullen, Sandra Eldridge, Alexander Pirie, Elaine Denny, Doug McCorry, Khalid S Khan
BACKGROUND: Pregnant women with epilepsy on antiepileptic drugs (AEDs) may experience a reduction in serum AED levels. This has the potential to worsen seizure control. OBJECTIVE: To determine if, in pregnant women with epilepsy on AEDs, additional therapeutic drug monitoring reduces seizure deterioration compared with clinical features monitoring after a reduction in serum AED levels. DESIGN: A double-blind, randomised trial nested within a cohort study was conducted and a qualitative study of acceptability of the two strategies was undertaken...
May 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29728616/the-role-of-kainate-receptors-in-the-pathophysiology-of-hypoxia-induced-seizures-in-the-neonatal-mouse
#12
Denise K Grosenbaugh, Brittany M Ross, Pravin Wagley, Santina A Zanelli
Kainate receptors (KARs) are glutamate receptors with peak expression during late embryonic and early postnatal periods. Altered KAR-mediated neurotransmission and subunit expression are observed in several brain disorders, including epilepsy. Here, we examined the role of KARs in regulating seizures in neonatal C57BL/6 mice exposed to a hypoxic insult. We found that knockout of the GluK2 subunit, or blockade of KARs by UBP310 reduced seizure susceptibility during the period of reoxygenation. Following the hypoxic insult, we observed an increase in excitatory neurotransmission in hippocampal CA3 pyramidal cells, which was blocked by treatment with UBP310 prior to hypoxia...
May 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29720941/neonatal-seizure-models-to-study-epileptogenesis
#13
REVIEW
Yuka Kasahara, Yuji Ikegaya, Ryuta Koyama
Current therapeutic strategies for epilepsy include anti-epileptic drugs and surgical treatments that are mainly focused on the suppression of existing seizures rather than the occurrence of the first spontaneous seizure. These symptomatic treatments help a certain proportion of patients, but these strategies are not intended to clarify the cellular and molecular mechanisms underlying the primary process of epilepsy development, i.e., epileptogenesis. Epileptogenic changes include reorganization of neural and glial circuits, resulting in the formation of an epileptogenic focus...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29720158/a-systematic-review-comparing-neurodevelopmental-outcome-in-term-infants-with-hypoxic-and-vascular-brain-injury-with-and-without-seizures
#14
T R De Haan, J Langeslag, J H van der Lee, A H van Kaam
BACKGROUND: There is increasing evidence that neonatal seizures in term neonates with stroke, asphyxia or brain haemorrhage might be associated with adverse neurodevelopment and development of epilepsy. The extent of this association is not known. The objective of this study was to assess the possible impact of neonatal seizures on these outcomes and if possible calculate a relative risk. METHODS: A systematic review and meta-analysis was performed (study period January 2000-June 2015)...
May 2, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29718889/therapeutic-benefits-of-acth-and-levetiracetam-in-stxbp1-encephalopathy-with-a-de-novo-mutation-a-case-report-and-literature-review
#15
Shunli Liu, Liyuan Wang, Xiao Tang Cai, Hui Zhou, Dan Yu, Zhiling Wang
RATIONALE: The case report aims to discuss the clinical symptoms and treatment of encephalopathy caused by a novel syntaxin- binding protein 1 (STXBP1) genetic mutation. PATIENT CONCERNS: The patient, a girl, was born at 38+4 weeks of gestation. She had frequent spasm attacks accompanied by obvious psychomotor development retardation since the neonatal period. Genetic screening identified a novel STXBP1 genetic mutation. DIAGNOSES: Early-onset epileptic encephalopathy with STXBP1 mutation...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29702991/intracranial-hemorrhage-associated-with-medulla-oblongata-dysplasia-in-a-premature-infant-a-case-report
#16
Li-Na Jiang, Mei-Chen Wei, Hong Cui
RATIONALE: Medulla oblongata dysplasia is an extremely rare form of neurodevelopmental immaturity in premature infants. Intracranial hemorrhage in premature infants may be closely related to neurodevelopmental immaturity. DIAGNOSES: We report a female premature infant who succumbed to intracranial hemorrhage caused by medulla oblongata dysplasia. PATIENT CONCERNS: The infant was born at 31 weeks gestation. The onset manifestation was symptomatic epilepsy associated with subependymal hemorrhage...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29700828/therapeutic-potential-to-reduce-brain-injury-in-growth-restricted-newborns
#17
Julie A Wixey, Kirat K Chand, Lily Pham, Paul B Colditz, S Tracey Bjorkman
Brain injury in intrauterine growth restricted (IUGR) infants is a major contributing factor to morbidity and mortality worldwide. Adverse outcomes range from mild learning difficulties, to attention difficulties, neurobehavioral issues, cerebral palsy, epilepsy, and other cognitive and psychiatric disorders. While the use of medication to ameliorate neurological deficits in IUGR neonates have been identified as warranting urgent research for several years, few trials have been reported. This review summarises clinical trials focusing on brain protection in the IUGR newborn as well as therapeutic interventions trialled in animal models of IUGR...
April 27, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29689584/bedside-ultrasound-guided-percutaneous-needle-aspiration-of-intra-and-extra-axial-intracranial-hemorrhage-in-neonates
#18
Mehmet N Cizmeci, Liesbeth Thewissen, Alexandra Zecic, Peter A Woerdeman, Bart de Boer, Edward Baert, Paul Govaert, Jeroen Dudink, Floris Groenendaal, Maarten Lequin, Linda S de Vries
Intracranial hemorrhage is an important cause of brain injury in the neonatal population and bedside percutaneous needle aspiration has emerged as an alternative due to the major risks that can be caused by standard neurosurgical decompression. We aimed to assess the effectiveness of this minimally invasive bedside technique and conducted a retrospective analysis of all newborn infants with a large extra-axial hemorrhage associated with a parenchymal hemorrhage causing a midline shift, managed at three academic centers over a 15-year period...
April 24, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29684552/neonatal-whisker-trimming-in-wag-rij-rat-pups-causes-developmental-delay-encourages-maternal-care-and-affects-exploratory-activity-in-adulthood
#19
Kirill Smirnov, Daria Tsvetaeva, Evgenia Sitnikova
WAG/Rij rats are genetically predisposed to absence epilepsy. Maternal behavior in WAG/Rij female rats is known to differ from that in non-epileptic females. We hypothesize that (1) mother's behavior may be changed as response to changes in pup's conditions; (2) sensory deprivation at the neonatal age affect learning and behavior in adulthood. All whiskers in WAG/Rij rat pups were trimmed daily during PN1-PN8. Maternal behavior was examined during the same period. It was found that in the control group, WAG/Rij females often demonstrated abnormally long (>1 min) repetitive purposeless stereotypical actions that were roughly classified as compulsive-like behavior...
April 20, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29663568/abnormal-function-of-the-uba5-protein-in-a-case-of-early-developmental-and-epileptic-encephalopathy-with-suppression-burst
#20
Cécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, Jens Daniel, Florence Riccardi, Pierre Cacciagli, Majdi Nagara, Tiffany Busa, Eva Liebau, Laurent Villard
Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his parents. In the proband, we identified a homozygous missense variant in the ubiquitin-like modifier activating enzyme 5 (UBA5) gene, encoding a protein involved in post-translational modifications. Functional analysis of the UBA5 variant protein reveals that it is almost completely unable to perform its trans-thiolation activity...
April 16, 2018: Human Mutation
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