GABAergic Neuron Deficit As An Idiopathic Generalized Epilepsy Mechanism The Role Of BRD2 Haploinsufficiency In Juvenile Myoclonic Epilepsy 英文参考文献.docVIP

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GABAergic Neuron Deficit As An Idiopathic Generalized Epilepsy Mechanism The Role Of BRD2 Haploinsufficiency In Juvenile Myoclonic Epilepsy 英文参考文献.doc

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GABAergic Neuron Deficit As An Idiopathic Generalized Epilepsy Mechanism The Role Of BRD2 Haploinsufficiency In Juvenile Myoclonic Epilepsy 英文参考文献

GABAergicNeuronDeficitAsAnIdiopathicGeneralized EpilepsyMechanism:TheRoleOfBRD2 HaploinsufficiencyInJuvenileMyoclonicEpilepsy LiborVel?′sˇek1,2,8,9*.,EnyuanShang5.,JanaVel?′sˇkova′1,3,8,9,TamarChachua1,8,StephaniaMacchiarulo4, GiorgiMaglakelidze5,6,DebraJ.Wolgemuth7,DavidA.Greenberg5,6 1DepartmentofCellBiologyAnatomy,NewYorkCollegeofMedicine,Valhalla,NewYork,UnitedStatesofAmerica,2DepartmentofPediatrics,NewYorkCollegeof Medicine,Valhalla,NewYork,UnitedStatesofAmerica,3DepartmentofObstetricsandGynecology,NewYorkCollegeofMedicine,Valhalla,NewYork,UnitedStatesof America,4DominickP. PurpuraDepartment ofNeuroscience,Albert Einstein CollegeofMedicine,Bronx, New York, United States ofAmerica, 5DivisionofStatistical Genetics,DepartmentofBiostatistics,MailmanSchoolofPublicHealth,ColumbiaUniversityMedicalCenter,NewYork,NewYork,UnitedStatesofAmerica,6Department of Psychiatry, Columbia University Medical Center, New York, New York, United States of America, 7Department of Genetics and Development and Obstetrics and Gynecology,TheHerbertIrvingComprehensiveCancerCenter,andTheInstituteofHumanNutrition,ColumbiaUniversityMedicalCenter,NewYork,NewYork,United StatesofAmerica,8TheSaulR.KoreyDepartmentofNeurology,AlbertEinsteinCollegeofMedicine,Bronx,NewYork,UnitedStatesofAmerica,9DominickP.Purpura DepartmentofNeuroscience,AlbertEinsteinCollegeofMedicine,Bronx,NewYork,UnitedStatesofAmerica Abstract Idiopathic generalized epilepsy (IGE) syndromes represent about 30% of all epilepsies. They have strong, but elusive, genetic components and sex-specific seizure expression. Multiple linkage and population association studies have connectedthebromodomain-containinggeneBRD2toformsofIGE.Inmice,anullmutationatthehomologousBrd2locus resultsinembryoniclethalitywhileheterozygousBrd2+/2miceareviableandovertlynormal.However,usingtheflurothyl model,wenowshow,thatcompared tothe Brd2+/+littermates, Brd2+/2 maleshaveadecreasedclonic, andfemalesa decreasedtonic-clonic,seizurethreshold.Additionall