0000000000306098

AUTHOR

Salvatore Striano

showing 2 related works from this author

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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Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

2012

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …

MaleOncologyendocrine system diseasesMicroarrayGene DosagePreschool Cohort Studies Computational Biology Diagnostic and Statistical Manual of Mental Disorders EpilepsyBioinformaticsPolymerase Chain ReactionFluorescence Intellectual DisabilityCohort StudiesEpilepsySettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationProspective StudiesCopy-number variationAge of OnsetChildProspective cohort studyIn Situ Hybridization Fluorescenceepidemiology/genetics Nucleic Acid Hybridization Polymerase Chain Reaction Prospective Studies Young AdultGene RearrangementNucleic Acid HybridizationMiddle AgedControl subjectsMagnetic Resonance ImagingDiagnostic and Statistical Manual of Mental Disordersgenetics Female Gene Deletion Gene Dosage Gene Duplication Gene Rearrangement Genome-Wide Association Study Humans In Situ HybridizationItalyRare Copy Number Variations EpilepsyChild PreschoolFemaleepidemiology/genetics ItalyAdultmedicine.medical_specialtyAdolescentBiologyYoung AdultAdolescent Adult Age of Onset Aged Child ChildArts and Humanities (miscellaneous)Intellectual DisabilityInternal medicinemental disordersmedicineHumansIn patientClinical significanceepidemiology Magnetic Resonance Imaging Male Microarray Analysis Middle Aged Nervous System DiseaseAgedEpilepsyComputational BiologyMicroarray Analysismedicine.diseaseSettore MED/03 - Genetica MedicaNeurology (clinical)Nervous System DiseasesGene DeletionGenome-Wide Association StudyComparative genomic hybridization
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