0000000000349877

AUTHOR

Monica Traverso

0000-0003-0606-8797

showing 2 related works from this author

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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Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

2006

Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …

ProbandMaleGenetic LinkagePenetranceEpilepsyModelsgeneticsTomographyFamilial hemiplegic migraineGeneticsNeurologic ExaminationBrainChromosome MappingElectroencephalographyPenetranceMagnetic Resonance Imagingstatistics /&/ numerical dataPedigreeX-Ray ComputedNeurologyFemaleHumanmedicine.medical_specialtyBenign NeonatalBrain; pathology/radiography Chromosome Mapping Chromosomes; Human; Pair 16; genetics Chromosomes; Pair 19; genetics Electroencephalography; statistics /&/ numerical data Epilepsy; Benign Neonatal; diagnosis/genetics Family Female Genetic Heterogeneity Genetic Linkage Haplotypes Humans Magnetic Resonance Imaging Male Models; Genetic Mutation; genetics Neurologic Examination Pedigree Penetrance Tomography; X-Ray Computedpathology/radiographyChromosomesGenetic HeterogeneityGeneticGenetic linkageFebrile seizureGenetic modelmedicineHumansFamilyPsychiatryEpilepsyModels GeneticPair 19Genetic heterogeneitybusiness.industryPair 16medicine.diseaseEpilepsy Benign NeonatalHaplotypesMutationNeurology (clinical)Tomography X-Ray ComputedbusinessChromosomes Human Pair 19Chromosomes Human Pair 16diagnosis/genetics
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