Search results for "rolandic epilepsy"

showing 3 items of 3 documents

Poor School Academic Performance and Benign Epilepsy with Centro-Temporal Spikes

2023

Background: Poor academic performance of students with epilepsy seems to be a multifactorial problem related to difficulties in reading, writing, math, and logic skills. Poor school and academic performances refer to learning problems in a specific academic area due to learning disorders and learning difficulties not excluding the ability to learn in a different manner during school and academic life. Sometimes, school, academic difficulties, and Rolandic epilepsy can coexist together, and there may be comorbidities. Consequently, the risk of impaired academic performance in people with epilepsy is high. Methods: This review analyzed the relationship between Benign Epilepsy with Centro-Temp…

Behavioral NeuroscienceBenign Epilepsy with Centro-Temporal Spikepoor academic performancelearning difficuGeneticsspecific learning disorderrolandic epilepsyDevelopmentGeneral PsychologyEcology Evolution Behavior and SystematicsBehavioral Sciences
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Combined spike-related functional MRI and multiple source analysis in the non-invasive spike localization of benign rolandic epilepsy.

2007

Abstract Objective To localize the irritative zone in children by combined spike-related fMRI and EEG multiple source analysis (MSA) in children with benign rolandic epilepsy. Methods Interictal spikes were averaged and localized using MSA, and source locations were displayed in the anatomical 3D-MRI in 11 patients (5–12 yrs, median 10). Interictal spikes were additionally recorded during the fMRI acquisition (EEG-fMRI), and the fMRI sequences were correlated off-line with the EEG spikes. Results MSA revealed an initial central dipole in all patients, including the face or hand area. A second dipolar source was mostly consistent with propagated activity. BOLD activations from EEG-fMRI, cons…

Benign Rolandic EpilepsyElectroencephalographyBrain mappingEpilepsyPhysiology (medical)medicineImage Processing Computer-AssistedHumansIctalChildCerebral CortexBrain MappingPrincipal Component Analysismedicine.diagnostic_testLateral sulcusElectroencephalographymedicine.diseaseEpilepsy RolandicMagnetic Resonance ImagingSensory Systemsnervous system diseasesRolandic epilepsyOxygennervous systemNeurologyChild PreschoolNeurology (clinical)PsychologyNeuroscienceInsulaClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
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TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

2019

Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in…

MaleModels Molecular0301 basic medicineProtein ConformationAmino Acid Motifsalpha-TocopherolMutantCrystallography X-RayPHENOTYPECompound heterozygosityAntioxidantsAnimals Genetically ModifiedEpilepsy0302 clinical medicineCatalytic DomainDrosophila ProteinsMissense mutationoxidative stressChildTLDC DOMAINVITAMIN-EExome sequencingSequence DeletionNeuronsDystoniaGeneticsexercise-induced dystoniaTBC1D24GTPase-Activating ProteinsANNOTATIONSEpilepsy RolandicPhenotypeRecombinant ProteinsPedigree3. Good healthRolandic epilepsyDystoniaDrosophila melanogasterChild PreschoolFemaleSettore MED/26 - NeurologiaSynaptic VesiclesDrosophila melanogasterPROTEIN STABILITYLife Sciences & BiomedicineLocomotionAdolescentPhysical ExertionMutation MissenseClinical NeurologyPREDICTIONSBiology03 medical and health sciencesmedicineAnimalsHumansAmino Acid SequenceCOMPARTMENToxidative streScience & TechnologySequence Homology Amino AcidMUTATIONSNeurosciencesInfantBiological TransportDEGRADATIONmedicine.diseasebiology.organism_classificationAcetylcysteineDisease Models AnimalOxidative Stress030104 developmental biologyrab GTP-Binding ProteinsSEIZURESNeurosciences & NeurologyNeurology (clinical)Reactive Oxygen SpeciesSequence Alignment030217 neurology & neurosurgery
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