2020
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
Dong W, Jin SC, Allocco A, Zeng X, Sheth AH, Panchagnula S, Castonguay A, Lorenzo LÉ, Islam B, Brindle G, Bachand K, Hu J, Sularz A, Gaillard J, Choi J, Dunbar A, Nelson-Williams C, Kiziltug E, Furey CG, Conine S, Duy PQ, Kundishora AJ, Loring E, Li B, Lu Q, Zhou G, Liu W, Li X, Sierant MC, Mane S, Castaldi C, López-Giráldez F, Knight JR, Sekula RF, Simard JM, Eskandar EN, Gottschalk C, Moliterno J, Günel M, Gerrard JL, Dib-Hajj S, Waxman SG, Barker FG, Alper SL, Chahine M, Haider S, De Koninck Y, Lifton RP, Kahle KT. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. IScience 2020, 23: 101552. PMID: 33083721, PMCID: PMC7554653, DOI: 10.1016/j.isci.2020.101552.Peer-Reviewed Original ResearchTrigeminal neuralgiaNeuronal ion transportImpairment of GABAVoltage-gated CaMechanical allodyniaTN pathogenesisPain syndromePain behaviorGABA signalingReceptor ClDisease pathogenesisTN casesFamilial clusteringExome sequencingGenetic factorsVariant burdenNeuralgiaRare damaging variantsPathogenesisGABAChannel CaDamaging variantsProbandsParent-offspring triosLarge-scale genomic studies
2003
Histopathology and reorganization of chandelier cells in the human epileptic sclerotic hippocampus
Arellano J, Muñoz A, Ballesteros-Yáñez I, Sola R, DeFelipe J. Histopathology and reorganization of chandelier cells in the human epileptic sclerotic hippocampus. Brain 2003, 127: 45-64. PMID: 14534159, DOI: 10.1093/brain/awh004.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultCalbindinsCarrier ProteinsDentate GyrusEpilepsy, Temporal LobeFemaleGABA Plasma Membrane Transport ProteinsHippocampusHumansImmunoenzyme TechniquesInterneuronsMaleMembrane ProteinsMembrane Transport ProteinsMiddle AgedNeural Cell Adhesion Molecule L1Organic Anion TransportersParvalbuminsPresynaptic TerminalsS100 Calcium Binding Protein GSialic AcidsTerminology as TopicConceptsCalbindin D-28kChandelier cellsDentate gyrusProtein parvalbuminHippocampal formationSclerotic hippocampusGABAergic circuitsNeuron lossPyramidal layerCalcium-binding protein parvalbuminBasket formationImpairment of GABANormal hippocampal formationHuman epileptic hippocampusTemporal lobe epilepsyCortical pyramidal cellsAxon initial segmentNeural cell adhesion moleculeGABA transporter 1PV-immunoreactiveHippocampal sclerosisClinical characteristicsEpileptic hippocampusLobe epilepsyDifferent hippocampal fields
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