2024
mTOR in Acquired and Genetic Models of Epilepsy
Wong M, Bordey A, Danzer S. mTOR in Acquired and Genetic Models of Epilepsy. 2024, 45-74. DOI: 10.1093/med/9780197549469.003.0004.Peer-Reviewed Original ResearchDisrupted mTOR signalingMTOR signalingDysregulation of mTOR signalingCellular functionsMTOR pathway signalingAbstract MutationsTarget of rapamycinPathway signalingSignaling pathwayGenetic modelsMTOR pathwayPathway disruptionMTORPathwayNongenetic causesRegulate brain developmentGeneral patternTraumatic brain injuryTuberous sclerosis complexGenetic model of epilepsyPatterns of brain pathologyPotential mechanismsSignalBrain developmentModulator of epileptogenesis
2022
Current Review in Basic Science: Animal Models of Focal Cortical Dysplasia and Epilepsy
Nguyen LH, Bordey A. Current Review in Basic Science: Animal Models of Focal Cortical Dysplasia and Epilepsy. Epilepsy Currents 2022, 22: 234-240. PMID: 36187145, PMCID: PMC9483763, DOI: 10.1177/15357597221098230.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsFocal cortical dysplasiaFCD type IIAnimal modelsCortical dysplasiaMechanisms of epileptogenesisNumerous animal modelsElectroclinical featuresIntractable epilepsyType IIFCD subtypesFrequent causeCortical developmentPrevalent causeNovel therapeuticsEpilepsyEarly lifeGene mutationsClinical applicationCurrent reviewDysplasiaTechnical considerationsMTORBasic scienceCauseInhibition of MEK-ERK signaling reduces seizures in two mouse models of tuberous sclerosis complex
Nguyen LH, Leiser SC, Song D, Brunner D, Roberds SL, Wong M, Bordey A. Inhibition of MEK-ERK signaling reduces seizures in two mouse models of tuberous sclerosis complex. Epilepsy Research 2022, 181: 106890. PMID: 35219048, PMCID: PMC8930622, DOI: 10.1016/j.eplepsyres.2022.106890.Peer-Reviewed Original ResearchConceptsTuberous sclerosis complexMouse modelTSC mouse modelsDevelopmental brain malformationsMEK-ERKNovel treatment targetsMEK inhibitor PD0325901Intractable epilepsySeizure activityTSC patientsSeizure suppressionBrain malformationsMTOR inhibitorsTreatment targetsMEK-ERK activitySeizuresTSC neuropathologyPotential alternative strategyMEK-ERK inhibitionInhibitor PD0325901Monogenic disordersInhibitionMTORTreatmentEverolimus
2019
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations
Iffland PH, Carson V, Bordey A, Crino PB. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Epilepsia 2019, 60: 2163-2173. PMID: 31625153, PMCID: PMC7155771, DOI: 10.1111/epi.16370.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCellular amino acid levelsRegulatory gene mutationsActivator RhebAmino acid levelsProtein complexesSingle geneRegulatory proteinsGene mutationsMechanistic targetNPRL3Rapamycin (mTOR) pathwayMTOR activationMTOR pathwayMutationsNPRL2MTOR inhibitionGenesFocal cortical dysplasia type IIaMTORDEPDC5ProteinPivotal rolePathwayRecent studiesNeuronal excitability
2014
MEK-ERK1/2-Dependent FLNA Overexpression Promotes Abnormal Dendritic Patterning in Tuberous Sclerosis Independent of mTOR
Zhang L, Bartley CM, Gong X, Hsieh LS, Lin TV, Feliciano DM, Bordey A. MEK-ERK1/2-Dependent FLNA Overexpression Promotes Abnormal Dendritic Patterning in Tuberous Sclerosis Independent of mTOR. Neuron 2014, 84: 78-91. PMID: 25277454, PMCID: PMC4185153, DOI: 10.1016/j.neuron.2014.09.009.Peer-Reviewed Original ResearchConceptsDendritic complexityFLNA overexpressionDendritic abnormalitiesFLNA expressionDendritic patterningComplex dendritic arborsWild-type neuronsFilamin ADendritic arborsERK1/2-dependent mannerDendritic defectsNeurological defectsMEK-ERK1/2NeuronsMTOR activityNeurodevelopmental disordersNeurodevelopmental diseasesProtein filamin AAbnormalitiesMTOROverexpressionChapter 15 mTOR Signaling in Cortical Network Development
Lin T, Bordey A. Chapter 15 mTOR Signaling in Cortical Network Development. 2014, 193-205. DOI: 10.1016/b978-0-12-415804-7.00015-0.ChaptersCortical developmentCortical network developmentHyperactive mammalian targetModel disease statesCognitive dysfunctionPsychiatric disordersUtero electroporationMammalian targetNeurodegenerative diseasesMTOR signalingDisease statesCortical networksMTOR associationMTORDevelopmental aberrationsAssociationDysfunctionSeizuresMalformationsCortexDiseaseSchizophrenia