Search results for "SYNAPTIC-TRANSMISSION"

showing 2 items of 2 documents

Benign nocturnal alternating hemiplegia of childhood

2018

Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…

0301 basic medicineMaleExome sequencingPediatricsmedicine.medical_specialtyHeterozygoteHemiplegiaNerve Tissue ProteinsPATIENTSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciences0302 clinical medicinePRRT2 MUTATIONSmedicineHumansIctalPAROXYSMAL KINESIGENIC DYSKINESIAFamily historyPRRT2 geneExome sequencingCryingbusiness.industryAlternating hemiplegia of childhoodInfantMembrane ProteinsGeneral MedicineParoxysmal dyskinesiamedicine.diseaseDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]GENESleep deprivation030104 developmental biologyPhenotypeTreatment OutcomeSYNAPTIC-TRANSMISSIONMigraineMIGRAINEChild PreschoolPediatrics Perinatology and Child HealthDisease ProgressionNeurology (clinical)medicine.symptombusinessINFANTILE CONVULSIONS030217 neurology & neurosurgeryGene DeletionBenign nocturnal alternating hemiplegia of childhoodEuropean Journal of Paediatric Neurology
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Transient Receptor Potential Canonical 3 (TRPC3) Channels Are Required for Hypothalamic Glucose Detection and Energy Homeostasis

2017

Fil: Chrétien, Chloé. University of Bourgogne Franche-Comté. Institut National de la Recherche Agronomique. Centre des Sciences du Goût et de l’Alimentation; France Fil: Fenech, Claire. University of Bourgogne Franche-Comté. Institut National de la Recherche Agronomique. Centre des Sciences du Goût et de l’Alimentation; France Fil: Liénard, Fabienne. University of Bourgogne Franche-Comté. Institut National de la Recherche Agronomique. Centre des Sciences du Goût et de l’Alimentation; France Fil: Grall, Sylvie. University of Bourgogne Franche-Comté. Institut National de la Recherche Agronomique. Centre des Sciences du Goût et de l’Alimentation; France Fil: Chevalier, Charlène. University of …

Male0301 basic medicine[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionEndocrinology Diabetes and Metabolismmedicine.medical_treatmentsourisTRPC3proopiomelanocortin neuronsEnergy homeostasisRats Sprague-DawleyEatingMiceTransient receptor potential channelneuropeptide-yTRPC3synaptic-transmissionneuroneInsulin SecretionHomeostasisInsulinarcuate nucleusNeurons2. Zero hungerneuropeptide ydiabetesion channelsnoyau arquémuscle squelettiqueFastingfood-intakeprise alimentaire16. Peace & justiceNeuropeptide Y receptorcation channelsproopiomelanocortine3. Good healthMedicina BásicaAlimentation et NutritionEndocrinologie et métabolismemedicine.medical_specialtyCIENCIAS MÉDICAS Y DE LA SALUDBlotting Westernarcuate nucleus;food-intake;synaptic-transmission;endothelial-cell;skeletal-muscle;cation channel;neuropeptide-y;ion channel;mouse;proopiomelanocortin neuronHypothalamusInmunologíaMédecine humaine et pathologieBiologyNeurotransmissionReal-Time Polymerase Chain ReactionHOMEOSTASIS ENERGETICA03 medical and health sciencesCalcium imagingInternal medicineInternal MedicinemedicineFood and NutritionAnimalsskeletal-musclecanal ioniquemouseTRPC Cation ChannelsEndocrinology and metabolismInsulinBody Weighttransmission synaptiqueGlucose Tolerance TestRatsMice Inbred C57BLGlucose030104 developmental biologyEndocrinologyendothelial-cellsGLUCOSA HIPOTALAMICAHypothalamic glucose sensingAnorecticHuman health and pathologyCANALES IONICOSEnergy Metabolismcellule endotheliale[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
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