Featured Publications
Filamin A inhibition reduces seizure activity in a mouse model of focal cortical malformations
Zhang L, Huang T, Teaw S, Nguyen LH, Hsieh LS, Gong X, Burns LH, Bordey A. Filamin A inhibition reduces seizure activity in a mouse model of focal cortical malformations. Science Translational Medicine 2020, 12 PMID: 32075941, DOI: 10.1126/scitranslmed.aay0289.Peer-Reviewed Original ResearchConceptsFocal cortical dysplasia type IITuberous sclerosis complexFocal cortical malformationsCortical malformationsSeizure frequencyReduced seizure frequencyVehicle-treated miceOnset of seizuresFilamin ALifelong epilepsyShort hairpin RNANeurological comorbiditiesNeuronal abnormalitiesSeizure activityEpilepsy treatmentSeizure onsetMouse modelAdult miceFLNA expressionPatientsCortical tissueMiceSeizuresMalformationsHairpin RNAEctopic HCN4 expression drives mTOR-dependent epilepsy in mice
Hsieh LS, Wen JH, Nguyen LH, Zhang L, Getz SA, Torres-Reveron J, Wang Y, Spencer DD, Bordey A. Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice. Science Translational Medicine 2020, 12 PMID: 33208499, PMCID: PMC9888000, DOI: 10.1126/scitranslmed.abc1492.Peer-Reviewed Original ResearchConceptsFocal cortical dysplasia type IITuberous sclerosis complexFocal cortical malformationsPyramidal neuronsMouse modelHCN4 expressionCortical pyramidal neuronsOnset of seizuresIntracellular cAMP concentrationSeizure activityCortical malformationsRepetitive firingDiseased neuronsSeizuresAbnormal expressionNeuronsEpilepsyCausative linkSeizure mechanismsCAMP concentrationMechanistic targetHCN4Channel activityPatientsGene therapy
2012
Understanding the Etiology of Tuberous Sclerosis Complex
Bordey A. Understanding the Etiology of Tuberous Sclerosis Complex. 2012 DOI: 10.21236/ada566455.Peer-Reviewed Original ResearchTuberous sclerosis complexTSC lesionsAnimal modelsDiscrete cortical lesionsGenetic multisystem disorderSevere neurological symptomsTsc1 inactivationCortical hyperexcitabilityNeurological symptomsCortical lesionsPerinatal lifeTSC patientsSeizure generationMultisystem disorderFormation of lesionsSignificant causeLesionsLesion formationEtiologyDisordersNovel technical approachHyperexcitabilityMorbidityPatientsSymptoms