Search results for "seizures"

showing 10 items of 152 documents

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

2021

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Pediatricsmedicine.medical_specialtyKBGAdolescentseizureOutcome (game theory)ANKRD11EpilepsySeizuresIntellectual DisabilityMedicineHumansAbnormalities MultipleBone Diseases Developmentalbusiness.industryTooth AbnormalitiesFaciesHigh-Throughput Nucleotide SequencingGeneral MedicineKBG SYNDROMESyndromemedicine.diseaseKBG syndromeRepressor ProteinsPhenotypeNeurologySlowing EEG activityANKRD11; KBG; Seizures; Slowing EEG activity; SyndromeFemaleNeurology (clinical)businessSeizure
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Efficacy of levetiracetam in the treatment of drug-resistant Rett Syndrome.

2010

Rett syndrome (RTT) is a progressive neurological disorder characterized by a wide spectrum of phenotypes. Epilepsy is reported to occur in 50–90% of patients with RTT; some develop medically refractory epilepsy. The aim of this study is to investigate the efficacy of levetiracetam (LEV) in drug-resistant patients with RTT. This prospective, pragmatic, open-label study consisted of an 8-week baseline period and a 6-month evaluation period. Efficacy variable was the mean frequency of monthly seizures before, and after 3 and 6 months of treatment with LEV. Eight female patients, aged 7.5–19 years (M12.8 ± 5) entered the study. Mean age at epilepsy onset was 25.8 ± 14.1 months. All patients sh…

Pediatricsmedicine.medical_specialtyLevetiracetamAdolescentMethyl-CpG-Binding Protein 2medicine.medical_treatmentRett syndromeNeurological disorderDrug Administration ScheduleCentral nervous system diseasedrug therapy/geneticsYoung AdultEpilepsyanalogs /&/ derivatives/therapeutic useSeizuresConvulsionmedicineRett SyndromeHumansgeneticsEEGProspective StudiesMyoclonic seizuresChildProspective cohort studyPsychiatryDrug-resistanceAnalysis of Variancebusiness.industryPatient SelectionFocal seizureElectroencephalographymedicine.diseaseAdolescent Analysis of Variance Anticonvulsants; therapeutic use Child Drug Administration Schedule Electroencephalography Female Humans Methyl-CpG-Binding Protein 2; genetics Patient Selection Piracetam; analogs /&/ derivatives/therapeutic use Prospective Studies Quality of Life Rett Syndrome; drug therapy/genetics Seizures; drug therapy/genetics Treatment Outcome Young AdultPiracetamSettore MED/39 - Neuropsichiatria InfantileTreatment OutcomeAnticonvulsantNeurologytherapeutic useQuality of LifeAnticonvulsantsFemaleNeurology (clinical)Levetiracetammedicine.symptombusinessmedicine.drug
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Symptomatic seizures in preterm newborns: A review on clinical features and prognosis

2018

Abstract Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular haemorrhage, hypoxic-ischemic encephalopathy, central nervous system infections and transient metabolic derangements. Current definition of neonatal seizures requires detection of paroxysmal EEG-changes, and in preterm newborns the incidence of electrographic-only seizures seems to be particularly high, further stressing the crucial role of electroencephalogram monitoring in this population. Imaging work-up includes an integration of serial…

Pediatricsmedicine.medical_specialtyPrognosiDevelopmental DisabilitiesPopulationEncephalopathyInfant Premature DiseasesReviewElectroencephalographyCerebral palsy03 medical and health sciencesEpilepsy0302 clinical medicineRisk FactorsSeizures030225 pediatricsmedicineNewborn; Outcome; Prognosis; Seizures; TreatmentHumanseducationNeurophysiological MonitoringUltrasonographyOutcomeeducation.field_of_studymedicine.diagnostic_testbusiness.industryInfant Newbornlcsh:RJ1-570BrainSymptomatic seizuresElectroencephalographylcsh:PediatricsGeneral MedicineOff-Label Usemedicine.diseaseNewbornPrognosisMagnetic Resonance ImagingNeurophysiological MonitoringSeizureTreatmentEtiologyAnticonvulsantsbusiness030217 neurology & neurosurgeryInfant Premature
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The effect of cannabinoid receptor agonist WIN 55,212-2 on anxiety-like behavior and locomotion in a genetic model of absence seizures in the elevate…

2022

GAERS and NEC rats were treated with cannabinoid 1/2 receptor agonist WIN 55,212-2 2 mg/kg and tested on the Elevated Plus-Maze

PharmacologyCannabinoid Receptor AgonistsModels GeneticMorpholinesNECWIN 55212-2 2AnxietyNaphthalenesSettore BIO/09 - FisiologiaBenzoxazinesRatsElevated Plus Maze TestPsychiatry and Mental healthEpilepsy AbsenceSeizuresPhysiology (medical)GAERSAnimalsPharmacology (medical)Elevated Plus-MazeRats WistarLocomotionCNS neurosciencetherapeutics
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The control of amygdaloid and temporal paroxysmal activity by the caudate nucleus

1971

In gatti curarizzati ed in gatti portatori di elettrodi a dimora e liberi di muoversi, la stimolazione ripetitiva ad alta frequenza del nucleo caudato inibisce la comparsa sia dei fenomeni bioelettrici parossistici focalizzati nell'amigdala e nella corteccia temporale sia dei fenomeni comportamentali omologabili all'epilessia psicomotoria.

Pharmacologymedicine.medical_specialtyCaudate nucleusCell BiologyBiologyAmygdalaElectric StimulationTemporal LobeCellular and Molecular NeuroscienceEndocrinologyEpilepsy Temporal LobeSeizuresAnesthesiaInternal medicineCatsmedicineAnimalsMolecular MedicineCaudate NucleusMolecular BiologyExperientia
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TRESK channel contributes to depolarization-induced shunting inhibition and modulates epileptic seizures.

2020

Glutamatergic and GABAergic synaptic transmission controls excitation and inhibition of postsynaptic neurons, whereas activity of ion channels modulates neuronal intrinsic excitability. However, it is unclear how excessive neuronal excitation affects intrinsic inhibition to regain homeostatic stability under physiological or pathophysiological conditions. Here, we report that a seizure-like sustained depolarization can induce short-term inhibition of hippocampal CA3 neurons via a mechanism of membrane shunting. This depolarization-induced shunting inhibition (DShI) mediates a non-synaptic, but neuronal intrinsic, short-term plasticity that is able to suppress action potential generation and…

Potassium ChannelsAction PotentialsNeurotransmissionLigandsGeneral Biochemistry Genetics and Molecular BiologyIon ChannelsEpilepsyGlutamatergicPostsynaptic potentialSeizuresmedicinePotassium Channel BlockersAnimalsHumansRNA MessengerIon channelgamma-Aminobutyric AcidMice KnockoutNeuronsChemistryDepolarizationmedicine.diseaseMice Inbred C57BLHEK293 CellsGene Expression RegulationSynapsesCalciumNeuroscienceShunting inhibitionIonotropic effectCell reports
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NEUROPHYSIOLOGICAL AND NEUROCHEMICAL STUDIES WITH THE ISONICOTINOYLHYDRAZONE OF PYRIDOXAL 5-PHOSPHATE.

1964

Pyridoxal 5-PhosphateBrain chemistryCarboxy-LyasesBiochemistryCellular and Molecular Neurosciencechemistry.chemical_compoundNeurochemicalMesencephalonSeizuresCerebellumPonsIsoniazidPyridoxal phosphateTransaminasesBrain ChemistryPharmacologyMedulla OblongataGallamine TriethiodideChemistryAminobutyratesResearchBrainFrontal LobeElectrophysiologyBiochemistryPyridoxal PhosphateCatsJournal of neurochemistry
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Doege-Potter syndrome: When seizures and hypoglycemia collide.

2018

Reactive HypoglycemiaSeizuresInsulin-Like Growth FactorsElectroencephalographySolitary Fibrous Tumor of the PleuraLetter to EditorHypoglycemiaIranian journal of neurology
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Unilateral neonatal cerebral infarction in full term infants

1997

AIMS—To determine the prevalence of unilateral neonatal cerebral infarction in infants born at 32 weeks gestation and above; to describe the clinical course, imaging results, and outcome of neonatal cerebral infarction; and to investigate possible aetiology.
METHODS—Twelve cases of unilateral neonatal cerebral infarction were identified from neonatal unit records for the years 1987-93. Each case was matched with two controls.
RESULTS—All cases of neonatal cerebral infarction occurred in full term infants. The prevalence was around 1 in 4000, and neonatal cerebral infarction was found in 12% of infants presenting with neonatal seizures. Cerebral ultrasound scans failed to demonstrate lesions…

ResuscitationHemiplegiaCentral nervous system diseaseEpilepsySeizuresPrevalencemedicineHumansInfants nadonsStrokeNeonatal strokeRetrospective StudiesPediatriaCerebral infarctionbusiness.industryInfant NewbornObstetrics and GynecologyRetrospective cohort studyCerebral InfarctionOriginal ArticlesGeneral Medicinemedicine.diseaseCerebrovascular DisordersHemiparesisAnesthesiaPediatrics Perinatology and Child Healthmedicine.symptomTomography X-Ray Computedbusiness
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Seizures in Rett Syndrome: clinical and electrophysiologic aspects.

2008

Rett seizuresSettore MED/39 - Neuropsichiatria Infantile
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