Search results for "febrile seizures"

showing 4 items of 4 documents

Lack of SCN1A Mutations in Familial Febrile Seizures

2002

Summary:  Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…

GAMMA-2-SUBUNITMaleFebrile convulsionsDNA Mutational Analysismedicine.disease_causePolymerase Chain ReactionSodium ChannelsFebrileEpilepsyExonPLUSDNA Mutational AnalysisGene duplicationChildIndex caseChromatography High Pressure LiquidGeneticsChromatographyMutationIdiopathic epilepsyExonsNeurologyIon channelsHigh Pressure LiquidFemaleGeneralized epilepsy with febrile seizures plusMutationsAdultAdolescentGENERALIZED EPILEPSYNerve Tissue ProteinsSeizures FebrileSeizuresGeneticsmedicineHumansFamilybusiness.industryCONVULSIONSGene AmplificationSODIUM-CHANNELmedicine.diseaseGENEDYSFUNCTIONNAV1.1 Voltage-Gated Sodium ChannelFebrile convulsions; Genetics; Idiopathic epilepsy; Ion channels; Mutations; Adolescent; Adult; Child; Chromatography High Pressure Liquid; DNA Mutational Analysis; Exons; Female; Gene Amplification; Humans; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Polymerase Chain Reaction; Seizures Febrile; Sodium Channels; FamilyMutationMyoclonic epilepsyNeurology (clinical)businessEpilepsia
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Epidemiology and diagnostic and therapeutic management of febrile seizures in the Italian pediatric emergency departments: A prospective observationa…

2015

AIM: Febrile seizures (FS) involve 2-5% of the paediatric population, among which Complex FS (CFS) account for one third of accesses for FS in Emergency Departments (EDs). The aim of our study was to define the epidemiology, the clinical, diagnostic and therapeutic approach to FS and CFSs in the Italian EDs. METHODS: A multicenter prospective observational study was performed between April 2014 and March 2015. Patients between 1 and 60 months of age, randomly accessing to ED for ongoing FS or reported FS at home were included. Demographic features and diagnostic-therapeutic follow-up were recorded. FS were categorized in simple (<10min), prolonged (10-30min) and status epilepticus (>3…

MaleEmergency Medical ServicesPediatricsNeurologyFebrileEpilepsyStatus Epilepticus0302 clinical medicineBolus (medicine)EpidemiologyPrevalenceItalian populationEpidemiologic studyProspective StudiesChildPediatricEmergency ServiceAge FactorsSettore MED/38Emergency department; Epidemiologic study; Italian population; Pediatrics; Simple and complex febrile seizures;ItalyNeurologyChild PreschoolPopulation studyAnticonvulsantsFemaleEmergency Service HospitalEmergency department; Epidemiologic study; Italian population; Pediatrics; Simple and complex febrile seizures; Age Factors; Anticonvulsants; Child Preschool; Emergency Medical Services; Emergency Service Hospital; Female; Follow-Up Studies; Humans; Infant; Italy; Male; Prevalence; Prospective Studies; Seizures Febrile; Status Epilepticusmedicine.drugmedicine.medical_specialtypediatricsSeizures FebrileNOHospital03 medical and health sciencesSeizures030225 pediatricsmedicineHumansPreschoolEmergency departmentbusiness.industrySimple and complex febrile seizuresInfantEmergency departmentmedicine.diseaseemergency department; epidemiologic study; italian population; pediatrics; simple and complex febrile seizures; neurology; neurology (clinical)MidazolamObservational studyNeurology (clinical)business030217 neurology & neurosurgeryFollow-Up StudiesEpilepsy Research
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Inflammatory Biomarkers in Febrile Seizure: A Comprehensive Bibliometric, Review and Visualization Analysis.

2021

Background: Inflammatory markers association with many diseases is the subject of many articles and reviews. This study presents a comprehensive bibliometric review and visualization analysis of inflammatory biomarkers (IB) in the context of febrile seizure (FS) patients. Methods: The study focused on IB in FS using (1) bibliometric analysis specific indicators and maps in order to analyze and present the network of authors, journals, universities, and countries, and (2) automated literature screening and unsupervised clustering approach for filtering and topic cluster identification. Results: We conducted a literature mining search on FS research, specifically IB in the context of FS, usin…

bibliometricbusiness.industryGeneral NeuroscienceVOSviewerRed blood cell distribution widthContext (language use)Neurosciences. Biological psychiatry. NeuropsychiatryReviewBibliometricsBioinformaticsmedicine.diseaseInflammatory biomarkersVisualizationliterature miningText miningFebrile seizureMedicinefebrile seizuresMean platelet volumebusinessvisualizationRC321-571inflammatory biomarkersclusteringBrain sciences
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Exploring Inflammatory Status in Febrile Seizures Associated with Urinary Tract Infections: A Two-Step Cluster Approach

2021

Background: Urinary tract infections (UTIs) are considered common facilitating factors, along with other infections, in triggering febrile seizures (FS). The main purpose of our study was to identify specific inflammatory patterns of UTI cases from other infections in a specific cluster, using a combination of inflammatory biomarkers to differentiate UTIs from other bacterial diseases triggering FS. Method: This prospective study included a number of 136 patients with 197 distinct FS events, from patients hospitalized in the Pediatric Clinical Hospital Sibiu, among which 10.2% were diagnosed with UTIs. Results: In one-third of the patients with UTIs (20 cases), the symptoms were limited to …

medicine.medical_specialtyUrinary systemTwo stepNeurosciences. Biological psychiatry. NeuropsychiatryUrinecut-off valuesurologic and male genital diseasesGastroenterologyArticleInternal medicineMedicinefebrile seizuresMean platelet volumeProspective cohort studyinflammatory biomarkersbiologybusiness.industryGeneral NeurosciencePlatelet Distribution WidthC-reactive proteinInflammatory biomarkersfemale genital diseases and pregnancy complicationsurine leukocyte and nitrite stick testlaboratory databiology.proteinurinary tract infectionsbusinessCRPRC321-571cluster analysisBrain Sciences
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