0000000000447024

AUTHOR

Laura Licchetta

showing 3 related works from this author

Correction: The landscape of epilepsy-related GATOR1 variants

2019

International audience; The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article.

0303 health sciencesbusiness.industryPublished ErratumMEDLINEmedicine.diseasecomputer.software_genreSpelling03 medical and health sciencesEpilepsy0302 clinical medicine[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsmedicineArtificial intelligencebusinessPsychologycomputer030217 neurology & neurosurgeryGenetics (clinical)Natural language processing030304 developmental biology
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The landscape of epilepsy-related GATOR1 variants

2019

Purpose:\ud \ud To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway.\ud \ud Methods:\ud \ud We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants.\ud \ud Results:\ud \ud The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia…

Male0301 basic medicineProbandDEPDC5SUDEP030105 genetics & heredityBioinformaticsLoss of Function Mutation/geneticsEpilepsyINDEL MutationLoss of Function MutationmTORC1 pathwayGenetics(clinical)ChildGenetics (clinical)Multiprotein Complexes/geneticsBrugada SyndromeDNA Copy Number VariationBrugada syndromeINDEL Mutation/geneticsGTPase-Activating ProteinsNPRL3SeizureDEPDC5PhenotypePedigree3. Good healthBrugada Syndrome/geneticsChild PreschoolFemaleHumanSignal TransductionDNA Copy Number VariationsAdolescentSeizures/complicationsMechanistic Target of Rapamycin Complex 1/geneticsDNA Copy Number Variations/geneticsMechanistic Target of Rapamycin Complex 1Tumor Suppressor Proteins/geneticsArticleFocal cortical dysplasia03 medical and health sciencesSeizuresGTPase-Activating Proteins/geneticsmedicineHumansGenetic Predisposition to DiseaseDEPDC5; Focal cortical dysplasia; Genetic focal epilepsy; mTORC1 pathway; SUDEPGenetic focal epilepsyEpilepsy/complicationsRepressor Proteins/geneticsEpilepsybusiness.industryGTPase-Activating ProteinTumor Suppressor ProteinsInfant NewbornCorrectionInfantRepressor ProteinCortical dysplasiamedicine.diseaseddc:616.8Repressor Proteins030104 developmental biologyFrontal lobe seizures[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsMultiprotein ComplexesMultiprotein ComplexeSignal Transduction/geneticsHuman medicinebusiness
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Health-related quality of life in epilepsy: findings obtained with a new Italian instrument

2008

The aim of the present study was to evaluate the Epi-QoL, a new Italian-specific measure of health-related quality of life (HRQOL) for adults with epilepsy; the clinical variables that affected the HRQOL score were also assessed. The Epi-QoL is a 46-item self-administered questionnaire focusing on six domains: Physical Functioning, Cognitive Functioning, Emotional Well-Being, Social Functioning, Seizure Worry, and Medication Effects. Eight hundred fifteen patients recruited from 24 secondary and tertiary Italian centers for the care of epilepsy were assessed. The results supported the reliability and validity of the Epi-QoL as a measure of HRQOL. The variables that significantly affected HR…

AdultMaleQuestionnairesmedicine.medical_specialtymedia_common.quotation_subjectHealth StatusMEDLINEHRQOL epilepsy questionnairepsychologySeverity of Illness IndexBehavioral NeuroscienceEpilepsyQuality of life (healthcare)epidemiology/psychologySurveys and QuestionnairesSeverity of illnessMedicineHealth Status IndicatorsHumansCognitive skillPsychiatrymedia_commonHealth related quality of lifeEpilepsybusiness.industryAdult Epilepsy; epidemiology/psychology Female Health Status Health Status Indicators Humans Italy; epidemiology Male Middle Aged Quality of Life; psychology Questionnaires Severity of Illness IndexMiddle Agedmedicine.diseaseComorbidityhumanitiesSettore MED/26 - NEUROLOGIANeurologyItalyQuality of LifeepidemiologyFemaleNeurology (clinical)Worrybusiness
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