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The function of SCN2A in neocortex

Organization UNIVERSITY OF CALIFORNIA, SAN FRANCISCOLocation SAN FRANCISCO, UNITED STATESPosted 1 Apr 2021Deadline 31 Jan 2026 ⚠️
NIHUS FederalResearch GrantFY20252-photon21+ years oldASDAction PotentialsAddressAdultAdult HumanAffectAllelic LossAmmon HornApicalAutismAutistic DisorderAxonBackBiologicalBirthCalciumCausalityCell BodyCellsChromatin Remodeling ComplexChromatin Remodeling FactorComplementComplement ProteinsCornu AmmonisCre-LoxCre-LoxPCre/LoxPDNA mutationDendritesDevelopmentDiseaseDisorderDistalDorsumDysfunctionEarly Infantile AutismElectrophysiologyElectrophysiology (science)EngineeringEpilepsyEpileptic SeizuresEpilepticsEtiologyFamilyFunctional disorderFutureGene ClusterGenesGenetic ChangeGenetic TechnicsGenetic TechniquesGenetic defectGenetic mutationGlutamatesGoalsHeterozygoteHigh-Throughput Nucleotide SequencingHigh-Throughput SequencingHippocampusImageImpairmentInfantile AutismIntellectual disabilityIntellectual functioning disabilityIntellectual limitationIsoformsKI miceKanner's SyndromeKnock-in MouseKnock-outKnockoutKnowledgeL-GlutamateLifeLinkLoss of HeterozygosityLoxP-flanked alleleMiceMice MammalsMissense MutationModelingMurineMusMutationNAV1.6NaCh6Nav1.2NeocortexNerve CellsNerve UnitNeural CellNeurocyteNeurodevelopmental DisorderNeurological Development DisorderNeuronsNeurophysiology / ElectrophysiologyParturitionPhysiologicPhysiologicalPhysiopathologyPopulationPrefrontal CortexPropertyProtein IsoformsProteinsPyramidal CellsPyramidal neuronRecovery of FunctionReportingRoleSCN2A proteinSCN8ASCN8A geneSeizure DisorderShapesSiteSodium ChannelSodium Ion ChannelsSynapsesSynapticSynaptic plasticityTechniquesTestingTherapeuticTherapeutic InterventionTimeVariantVariationWorkadulthoodautism spectral disorderautism spectrum disorderautistic spectrum disorderbiologiccausationchromatin modifiercomplementationcritical perioddevelopmentaldisease causationearly onsetelectrophysiologicalepilepsiaepileptogenicexcitatory neuronexome sequencingexome-seqfloxedfloxed allelefunctional recoverygain of functiongenome mutationglutamatergicheterozygosityhippocampalhippocampal pyramidal neuronhomotypical corteximaginginfancyinfantileinsightintellectual and developmental disabilityinterestintervention therapyisocortexknockin micelate in lifelate lifelimited intellectual functioningloss of functionloss of function mutationmembermissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmouse geneticsmouse modelmurine modelna(v)1.2neocorticalneopalliumneurodevelopmental diseaseneuronalneuronal excitabilitynovelpathophysiologypost-natal developmentpostnatal developmentrepetitive behaviorrestorationsocial communicationsocial rolesodium channel, voltage gated, type VIII, alpha subunitsynapsesynapse functionsynaptic functiontwo-photonvoltage

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Description preview

Title: The function of SCN2A in autism spectrum disorder
Project Summary: Mutations identified by exome sequencing demonstrate that disruption of
the sodium channel SCN2A is strongly associated with autism spectrum disorder. SCN2A
encodes the neuronal sodium channel NaV1.2, which is expressed at the site of action potential
initiation. More…

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