Search results for "neonatal seizures"

showing 3 items of 3 documents

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

2015

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. By contrast, only few KCNQ3 mutations have been rarely described, mostly in patients with typical BFNS. We report clinical, genetic, and functional data from a family in which early onset epilepsy and neurocognitive deficits segregated with a novel mutation in KCNQ3 (c.989G>T; p.R330L). Electrophysiological stu…

MaleGenotype-phenotype correlationmedicine.medical_specialtyNeurologyBenign familial neonatal seizuresMutantGenotype-phenotype correlationsmedicine.disease_causeMutagenesiKCNQ3 Potassium ChannelEpilepsyKCNQBenign Familial Neonatal Seizures KCNQ cognitive impairment voltage-gated potassium channels epilepsy mutagenesis genotype-phenotype correlationsSeizuresSettore M-PSI/08 - Psicologia ClinicaIntellectual DisabilityIntellectual disabilitymedicineHumansKCNQ2 Potassium ChannelVoltage-gated potassium channelBenign familial neonatal seizuresGenetic Predisposition to DiseaseGenetic TestingChildGenetic testingGeneticsMutationEpilepsymedicine.diagnostic_testGenetic heterogeneitybusiness.industryMedicine (all)Benign familial neonatal seizures; Cognitive impairment; Epilepsy; Genotype-phenotype correlations; KCNQ; Mutagenesis; Voltage-gated potassium channels; Child; Female; Genetic Testing; Humans; Intellectual Disability; KCNQ2 Potassium Channel; KCNQ3 Potassium Channel; Male; Mutation; Pedigree; Seizures; Genetic Predisposition to Disease; Neurology (clinical); Neurology; Medicine (all)Benign familial neonatal seizuremedicine.diseaseSeizureSettore MED/39 - Neuropsichiatria InfantilePedigreeCognitive impairmentNeurologyMutagenesisMutationFemaleNeurology (clinical)businessVoltage-gated potassium channelsHuman
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Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience

2019

Background. Phenobarbital (PB) has been traditionally used as the first-line treatment for neonatal seizures. More recently, levetiracetam (LEV) has been increasingly used as a promising newer antiepileptic medication for treatment of seizures in neonates. Objectives. The aim of our study was to compare the effect of PB vs. LEV on short-term neurodevelopmental outcome in infants treated for neonatal seizures. Method. This randomized, one-blind prospective study was conducted on term neonates admitted to the Neonatal Intensive Care Unit of S. Bambino Hospital, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy, from February 2016 to February 2018. Thirty term neonates with s…

MalePediatricsmedicine.medical_specialtyNeonatal intensive care unitLevetiracetamArticle Subjectneonatal seizures levetiracetam neurodevelopmental outcomemedicine.medical_treatmentneonatal seizuresNeurological examinationNeurosciences. Biological psychiatry. NeuropsychiatrySingle CenterNO03 medical and health sciences0302 clinical medicineSeizures030225 pediatricsmedicineHumansProspective StudiesProspective cohort studymedicine.diagnostic_testbusiness.industryInfant NewbornAnticonvulsants Treatment Outcome Infant Newborn Italy Levetiracetam Neurodevelopmental Disorders Phenobarbital SeizuresInfantPhenobarbital; neonatal seizures; LevetiracetamGeneral MedicineTerm neonatesNewbornNeuropsychology and Physiological PsychologyAnticonvulsantTreatment OutcomeNeurologyItalyNeurodevelopmental DisordersPhenobarbitalClinical StudyPhenobarbitalFemaleAnticonvulsantsNeurology (clinical)Levetiracetambusiness030217 neurology & neurosurgerymedicine.drugRC321-571Behavioural Neurology
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Levetiracetam in Neonatal Seizures as First-line Treatment: A Prospective Study

2017

Aim of the Study: The aim of this study is to evaluate the efficacy and safety of levetiracetam (LEV) as first-line treatment of neonatal seizures. Materials and Methods: This study was conducted in patients of Neonatal Intensive Care Unit of Santo Bambino Hospital, University of Catania, Italy, from January to August 2016. A total of 16 neonates with convulsions not associated with major syndromes, which required anticonvulsant therapy, were included and underwent IV LEV at standard doses. Results: All patients responded to treatment, with a variety range of seizure resolution period (from 24 h to 15 days; mean hours: 96 ± 110.95). No patient required a second anticonvulsant therapy. Regar…

Pediatricsmedicine.medical_specialtyEfficiency and safety; levetiracetam; neonatal seizures; prospective studyNeonatal intensive care unitlevetiracetamneonatal seizuresAnticonvulsant therapyNO03 medical and health sciences0302 clinical medicine030225 pediatricsMedicineIn patientProspective cohort studybusiness.industryGeneral NeuroscienceEfficiency and safetyFirst line treatmentEfficiency and safety; levetiracetam; neonatal seizures; prospective study;AnesthesiaPediatrics Perinatology and Child HealthOriginal Articleneonatal seizureLevetiracetambusiness030217 neurology & neurosurgerymedicine.drugprospective study
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