Search results for " patch-clamp"

showing 2 items of 2 documents

Increased sensitivity of the neuronal nicotinic receptor alpha-2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

2006

Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep …

AdultMalemedicine.medical_specialtyAdolescentSomnambulismMolecular Sequence DataMutation MissenseAutosomal dominant nocturnal frontal lobe epilepsyReceptors NicotinicBiologymedicine.disease_causeLigandsNicotinicArticleEpilepsyBIO/09 - FISIOLOGIAInternal medicineAcetylcholine; Adolescent; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Epilepsy; Female; Humans; Ligands; Male; Molecular Sequence Data; Mutation Missense; Neurons; Pedigree; Receptors Nicotinic; Somnambulism; FearReceptorsmedicine80 and overGeneticsHumansIctalGenetics(clinical)Amino Acid SequenceGenetics (clinical)Acetylcholine receptorAgedAged 80 and overNeuronsMutationEpilepsySeizure typesFearmedicine.diseaseAcetylcholinePedigreeNicotinic acetylcholine receptorNicotinic agonistEndocrinologyMutationnAChR patch-clamp ADNFLE sleep-related epilepsy M1 TM1 ACh nicotineSettore MED/26 - NeurologiaFemaleMissense
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Perforated Patch-clamp Recording of Mouse Olfactory Sensory Neurons in Intact Neuroepithelium: Functional Analysis of Neurons Expressing an Identifie…

2015

Analyzing the physiological responses of olfactory sensory neurons (OSN) when stimulated with specific ligands is critical to understand the basis of olfactory-driven behaviors and their modulation. These coding properties depend heavily on the initial interaction between odor molecules and the olfactory receptor (OR) expressed in the OSNs. The identity, specificity and ligand spectrum of the expressed OR are critical. The probability to find the ligand of the OR expressed in an OSN chosen randomly within the epithelium is very low. To address this challenge, this protocol uses genetically tagged mice expressing the fluorescent protein GFP under the control of the promoter of defined ORs. O…

Olfactory systemPatch-Clamp TechniquesGeneral Chemical EngineeringGene ExpressionSensory systemMice TransgenicBiology[ SDV.BA ] Life Sciences [q-bio]/Animal biologyReceptors OdorantGeneral Biochemistry Genetics and Molecular BiologyOlfactory Receptor Neurons03 medical and health sciencesOlfactory mucosaMice0302 clinical medicineOlfactory Mucosaolfactory sensory neuronsGenes ReportermedicineAnimalsPatch clampissue 101030304 developmental biology0303 health sciencesOlfactory receptorGeneral Immunology and MicrobiologyGeneral Neuroscience[SDV.BA]Life Sciences [q-bio]/Animal biologygene-targeted mouserespiratory systemelectrophysiologytransductionperforated patch-clampEpitheliumSmellmedicine.anatomical_structure[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Odorants[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]sense organspharmacologyNeuroscienceTransduction (physiology)Olfactory epithelium030217 neurology & neurosurgeryNeuroscienceJournal of visualized experiments : JoVE
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