0000000000512385

AUTHOR

Lieven Lagae

showing 2 related works from this author

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

2014

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…

Models MolecularInterferon-Induced Helicase IFIH1Molecular Sequence DataHDE NEU PEDElectrophoretic Mobility Shift AssayBiologymedicine.disease_causeNervous System MalformationsReal-Time Polymerase Chain ReactionArticleDEAD-box RNA HelicasesImmune systemAutoimmune Diseases of the Nervous SystemDownregulation and upregulationAnalysis of Variance; Autoimmune Diseases of the Nervous System; Base Sequence; DEAD-box RNA Helicases; Electrophoretic Mobility Shift Assay; Exome; HEK293 Cells; Humans; Interferon Type I; Microsatellite Repeats; Molecular Sequence Data; Mutation; Nervous System Malformations; Real-Time Polymerase Chain Reaction; Sequence Analysis DNA; Signal Transduction; Spectrum Analysis; Models Molecular; Phenotype; GeneticsModelsInterferonGeneticsmedicineHumansExomeMutationAnalysis of VarianceBase SequenceSpectrum AnalysisMolecularRNAMDA5DNASequence Analysis DNAMolecular biology3. Good healthInterferon Tipo IHEK293 CellsPhenotypeInterferon Type IMutationCancer researchSignal transductionSequence AnalysisInterferon type Imedicine.drugMicrosatellite RepeatsSignal TransductionNature genetics
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Interictal cardiorespiratory variability in temporal lobe and absence epilepsy in childhood

2015

It is well known that epilepsy has a profound effect on the autonomic nervous system, especially on the autonomic control of heart rate and respiration. This effect has been widely studied during seizure activity, but less attention has been given to interictal (i.e. seizure-free) activity. The studies that have been done on this topic, showed that heart rate and respiration can be affected individually, even without the occurrence of seizures. In this work, the interactions between these two individual physiological variables are analysed during interictal activity in temporal lobe and absence epilepsy in childhood. These interactions are assessed by decomposing the predictive information …

PhysiologyInformation Theory02 engineering and technologyElectroencephalographyMultimodal Imaging01 natural sciencesAutonomic controlElectrocardiographyEpilepsy0302 clinical medicineHeart RateHeart rate variabilityChildmedicine.diagnostic_testSISTARespirationheart rate variabilityElectroencephalographySignal Processing Computer-Assistedtemporal lobe epilepsy3. Good healthabsence epilepsyCardiologyPsychologymedicine.medical_specialty0206 medical engineeringBiophysicsBiomedical EngineeringTemporal lobe03 medical and health sciencesInternal medicinePhysiology (medical)0103 physical sciencesRespirationHeart ratemedicineHumansIctal010306 general physicsinformation dynamicbusiness.industryCardiorespiratory fitnessmedicine.disease020601 biomedical engineeringAutonomic nervous systemEpilepsy AbsenceEpilepsy Temporal LobeBiophysicSettore ING-INF/06 - Bioingegneria Elettronica E InformaticaepilepsyTransfer entropybusinessNeuroscience030217 neurology & neurosurgery
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