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Neonatal seizure

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https://www.readbyqxmd.com/read/27923187/sleep-eeg-patterns-in-infants-with-congenital-zika-virus-syndrome
#1
Maria Durce Costa Gomes Carvalho, Demócrito de Barros Miranda-Filho, Vanessa van der Linden, Paula Fabiana Sobral, Regina Coeli Ferreira Ramos, Maria Ângela Wanderley Rocha, Marli Tenório Cordeiro, Sarah Pinheiro de Alencar, Magda Lahorgue Nunes
OBJECTIVES: To describe sleep EEG patterns of neonates, and infants with microcephaly due to congenital Zika virus (ZikV) syndrome. METHODS: A descriptive case series of EEGs performed in a cohort of neonates with microcephaly monitored from October 2015 to February 2016 at a University Hospital in Northeast Brazil. Infants were investigated following an established protocol that includes EEG, neuroimaging studies, PCR and specific antibodies for ZikV detection...
November 14, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27918326/anesthetic-considerations-for-patients-with-congenital-central-hypoventilation-syndrome-a-systematic-review-of-the-literature
#2
Saptashree M Basu, Frances F Chung, Shireen F AbdelHakim, Jean Wong
Congenital central hypoventilation syndrome (CCHS) is a form of sleep-disordered breathing characterized by a diminished drive to breathe during sleep, despite progressive hypercapnia and hypoxia. The condition results from mutations in the paired-like homeobox 2B (PHOX2B) gene. The aim of this review was to conduct a systematic search of the current data on CCHS as it relates to perioperative considerations and to discuss the classification, prevalence, pathophysiology, presentation, genetics, and management of the condition...
December 1, 2016: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27913086/punctate-white-matter-lesions-in-full-term-infants-with-neonatal-seizures-associated-with-slc13a5-mutations
#3
Lauren C Weeke, Eva Brilstra, Kees P Braun, Evelien Zonneveld-Huijssoon, Gajja S Salomons, Bobby P Koeleman, Koen L van Gassen, Henrica L van Straaten, Dana Craiu, Linda S de Vries
INTRODUCTION: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients. METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months...
November 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27905566/early-onset-epileptic-encephalopathy-caused-by-a-reduced-sensitivity-of-kv7-2-potassium-channels-to-phosphatidylinositol-4-5-bisphosphate
#4
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michela De Maria, Edoardo Moretto, Francesco Miceli, Alessandro Alaimo, Nunzio Iraci, Laura Manocchio, Alessandro Medoro, Maria Passafaro, Maurizio Taglialatela
Kv7.2 and Kv7.3 subunits underlie the M-current, a neuronal K(+) current characterized by an absolute functional requirement for phosphatidylinositol 4,5-bisphosphate (PIP2). Kv7.2 gene mutations cause early-onset neonatal seizures with heterogeneous clinical outcomes, ranging from self-limiting benign familial neonatal seizures to severe early-onset epileptic encephalopathy (Kv7.2-EE). In this study, the biochemical and functional consequences prompted by a recurrent variant (R325G) found independently in four individuals with severe forms of neonatal-onset EE have been investigated...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27895691/prognostic-factors-of-neurological-outcomes-in-late-preterm-and-term-infants-with-perinatal-asphyxia
#5
Sun Young Seo, Gyu Hong Shim, Myoung Jae Chey, Su Jeong You
PURPOSE: This study aimed to identify prognostic factors of neurological outcomes, including developmental delay, cerebral palsy and epilepsy in late-preterm and term infants with perinatal asphyxia. METHODS: All late-preterm and term infants with perinatal asphyxia or hypoxic-ischemic insults who admitted the neonatal intensive care unit of Inje University Sanggye Paik Hospital between 2006 and 2014 and were followed up for at least 2 years were included in this retrospective study...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27891080/enhanced-burst-suppression-and-disruption-of-local-field-potential-synchrony-in-a-mouse-model-of-focal-cortical-dysplasia-exhibiting-spike-wave-seizures
#6
Anthony J Williams, Chen Zhou, Qian-Quan Sun
Focal cortical dysplasias (FCDs) are a common cause of brain seizures and are often associated with intractable epilepsy. Here we evaluated aberrant brain neurophysiology in an in vivo mouse model of FCD induced by neonatal freeze lesions (FLs) to the right cortical hemisphere (near S1). Linear multi-electrode arrays were used to record extracellular potentials from cortical and subcortical brain regions near the FL in anesthetized mice (5-13 months old) followed by 24 h cortical electroencephalogram (EEG) recordings...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27889710/effect-of-withholding-phenobarbitone-maintenance-in-neonatal-seizures-a-randomized-controlled-trial
#7
Pranjali Saxena, Abhishek Singh, Amit Upadhyay, Priyanka Gupta, Sangeeta Sharma, Sreenivas Vishnubatla
OBJECTIVE: To compare the effect of withholding maintenance phenobarbitone on breakthrough seizures. DESIGN: A double blind randomized controlled trial. SETTING: Level II neonatal intensive care unit (NICU) of a teaching hospital in Northern India. PARTICIPANTS: Study population included 152 term and near term neonates (34 weeks of gestation age) with admission weight ?2 kg with clinically apparent seizures who received intravenous (IV) loading dose of 20mg/kg of phenobarbitone...
November 5, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27888506/rapid-and-safe-response-to-low-dose-carbamazepine-in-neonatal-epilepsy
#8
Tristan T Sands, Martina Balestri, Giulia Bellini, Sarah B Mulkey, Olivier Danhaive, Eliza Hayes Bakken, Maurizio Taglialatela, Michael S Oldham, Federico Vigevano, Gregory L Holmes, Maria Roberta Cilio
OBJECTIVE: To evaluate treatment responses in benign familial neonatal epilepsy (BFNE). METHODS: We recruited patients with BFNE through a multicenter international collaboration and reviewed electroclinical and genetic details, and treatment response. All patients were tested at minimum for mutations/deletions in the KCNQ2, KCNQ3, and SCN2A genes. RESULTS: Nineteen patients were included in this study. A family history of neonatal seizures was positive in 16 patients, and one additional patient had a family history of infantile seizures...
November 26, 2016: Epilepsia
https://www.readbyqxmd.com/read/27875769/status-epilepticus-in-pregnant-women-with-epilepsy-after-valproate-adjustment-a-case-series
#9
Mengqian Wu, Nanya Hao, Bo Yan, Xiaosa Chi, Dong Zhou
PURPOSE: Valproate is an effective wide-spectrum anti-epileptic drug that is also known to be teratogenic. Its administration in epileptic women remains controversial. This report aims to draw more attention to valproate adjustment before and during pregnancy. METHODS: We collected medical records of pregnant women with epilepsy at West China Hospital in Chengdu, China who developed status epilepticus during pregnancy after valproate withdrawal or reduction in dose from January 2013 to July 2015...
November 14, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27872899/de-novo-fgf12-mutation-in-2-patients-with-neonatal-onset-epilepsy
#10
Ilaria Guella, Linda Huh, Marna B McKenzie, Eric B Toyota, E Martina Bebin, Michelle L Thompson, Gregory M Cooper, Daniel M Evans, Sarah E Buerki, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Mary B Connolly, Matthew J Farrer, Michelle Demos
OBJECTIVE: We describe 2 additional patients with early-onset epilepsy with a de novo FGF12 mutation. METHODS: Whole-exome sequencing was performed in 2 unrelated patients with early-onset epilepsy and their unaffected parents. Genetic variants were assessed by comparative trio analysis. Clinical evolution, EEG, and neuroimaging are described. The phenotype and response to treatment was reviewed and compared to affected siblings in the original report. RESULTS: We identified the same FGF12 de novo mutation reported previously (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27872177/levetiracetam-for-the-treatment-of-seizures-in-neonatal-hypoxic-ischemic-encephalopathy
#11
Charu Venkatesan, Sarah Young, Mark Schapiro, Cameron Thomas
The objective of this study was to determine the efficacy and safety of levetiracetam in treatment of neonatal seizures due to hypoxic ischemic encephalopathy. Seizures often persist in neonates with hypoxic ischemic encephalopathy despite phenobarbital. A retrospective single-center study was conducted in neonates ≥36 weeks gestation with hypoxic ischemic encephalopathy. A total of 127 neonates were identified born 2008-2015. Clinical seizures occurred in 83 infants. Fifty-one neonates (61%) had cessation of seizures with only phenobarbital...
November 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#12
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
October 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27861786/infantile-spasms-and-encephalopathy-without-preceding-neonatal-seizures-caused-by-kcnq2-r198q-a-gain-of-function-variant
#13
John J Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A Mikati, Edward C Cooper, Maurizio Taglialatela
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-onset epilepsies, ranging from self-limiting forms to severe epileptic encephalopathy. Most KCNQ2 pathogenic variants cause loss-of-function, whereas few increase channel activity (gain-of-function). We herein provide evidence for a new phenotypic and functional profile in KCNQ2-related epilepsy: infantile spasms without prior neonatal seizures associated with a gain-of-function gene variant. With use of an international registry, we identified four unrelated patients with the same de novo heterozygous KCNQ2 c...
November 9, 2016: Epilepsia
https://www.readbyqxmd.com/read/27860117/development-of-a-core-outcome-set-for-epilepsy-in-pregnancy-e-core-a-national-multi-stakeholder-modified-delphi-consensus-study
#14
B H Al Wattar, K Tamilselvan, R Khan, A Kelso, A Sinha, A M Pirie, D McCorry, K S Khan, S Thangaratinam
OBJECTIVE: To develop a set of core outcomes for studies on pregnant women with epilepsy. DESIGN: Delphi consensus study. POPULATION: Healthcare professionals, and patient representatives with lived experience of epilepsy in the UK. METHODS: We used a modified Delphi method and a consultation meeting to achieve consensus. Potential outcomes were identified by systematic review, and were scored using a Likert scale anchored between 1 (least important) and 5 (most important)...
November 16, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27857791/perinatal-chikungunya-in-twins
#15
Vikneswari Karthiga, Peter Prasanth Kumar Kommu, Lalitha Krishnan
We report a case of vertically transmitted chikungunya infection in heterozygous twin neonates presenting as seizures, encephalopathy, midfacial hyperpigmentation, anemia, and thrombocytopenia. This could be considered as a rare cause of neonatal seizure and identification would help in appropriate management.
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27856333/novel-homozygous-missense-mutation-in-aldh7a1-causes-neonatal-pyridoxine-dependent-epilepsy
#16
Emanuele G Coci, Luca Codutti, Christian Fink, Sophie Bartsch, Gunnar Grüning, Thomas Lücke, Ingo Kurth, Joachim Riedel
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ(1)-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine...
November 14, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27855206/zika-prvabc59-infection-is-associated-with-t-cell-infiltration-and-neurodegeneration-in-cns-of-immunocompetent-neonatal-c57bl-6-mice
#17
Mohanraj Manangeeswaran, Derek D C Ireland, Daniela Verthelyi
The recent spread of Zika virus (ZIKV) and its association with increased rates of Guillain Barre and other neurological disorders as well as congenital defects that include microcephaly has created an urgent need to develop animal models to examine the pathogenesis of the disease and explore the efficacy of potential therapeutics and vaccines. Recently developed infection models for ZIKV utilize mice defective in interferon responses. In this study we establish and characterize a new model of peripheral ZIKV infection using immunocompetent neonatal C57BL/6 mice and compare its clinical progression, virus distribution, immune response, and neuropathology with that of C57BL/6-IFNAR KO mice...
November 2016: PLoS Pathogens
https://www.readbyqxmd.com/read/27852007/apc-conditional-knock-out-mouse-is-a-model-of-infantile-spasms-with-elevated-neuronal-%C3%AE-catenin-levels-neonatal-spasms-and-chronic-seizures
#18
Antonella Pirone, Jon Alexander, Lauren A Lau, David Hampton, Andrew Zayachkivsky, Amy Yee, Audrey Yee, Michele H Jacob, Chris G Dulla
Infantile spasms (IS) are a catastrophic childhood epilepsy syndrome characterized by flexion-extension spasms during infancy that progress to chronic seizures and cognitive deficits in later life. The molecular causes of IS are poorly defined. Genetic screens of individuals with IS have identified multiple risk genes, several of which are predicted to alter β-catenin pathways. However, evidence linking malfunction of β-catenin pathways and IS is lacking. Here, we show that conditional deletion in mice of the adenomatous polyposis coli gene (APC cKO), the major negative regulator of β-catenin, leads to excessive β-catenin levels and multiple salient features of human IS...
November 13, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27831551/changing-antiepileptic-drug-use-for-seizures-in-us-neonatal-intensive-care-units-from-2005-to-2014
#19
K A Ahmad, S J Desai, M M Bennett, S F Ahmad, Y-T Ng, R H Clark, V N Tolia
OBJECTIVE: Neonatal seizures are a common problem in the neonatal intensive care unit and are frequently treated with antiepileptic drugs. Limited data exist on current or changing antiepileptic drug use for seizures in the neonatal intensive care unit.We sought to describe trends of antiepileptic drug exposure in a large volume of US neonatal intensive care unit from 2005 to 2014 and we hypothesized increasing levetiracetam exposure over the 10-year study period. STUDY DESIGN: Retrospective cohort study of infants from the Pediatrix Medical Group Clinical Data Warehouse, a large, multicenter, deidentified data set...
November 10, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27829512/treatment-duration-after-acute-symptomatic-seizures-in-neonates-a-multicenter-cohort-study
#20
RenéeA Shellhaas, Taeun Chang, CourtneyJ Wusthoff, JanetS Soul, ShavonneL Massey, CatherineJ Chu, M Roberta Cilio, SoniaL Bonifacio, NicholasS Abend, TammyN Tsuchida, HannahC Glass
We aimed to define determinants of duration of treatment for acute symptomatic neonatal seizures in a contemporary multicenter observational cohort study. After adjustment for potential confounders, only study site and seizure etiology remained significantly associated with the chance of continuing antiseizure medication after discharge to home.
November 7, 2016: Journal of Pediatrics
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