2024
Rasmussen’s Encephalitis and Focal Cortical Dysplasia
Vadiparati A, Herlopian A. Rasmussen’s Encephalitis and Focal Cortical Dysplasia. 2024, 241-286. DOI: 10.1007/978-3-031-23828-4_12.Peer-Reviewed Original ResearchOccipital lobe epilepsyRasmussen encephalitisSurgical interventionLobe epilepsyVisual field analysisSurgical decision-making processFocal cortical dysplasiaLeft occipital lobeAnterior thalamic nucleiClinical presentationCortical dysplasiaMultifocal epilepsySurgical techniqueIntractable seizuresOutcome predictorsDeep brain stimulationThalamic nucleiNeuromodulation therapiesDiagnostic criteriaOccipital lobeOccipital lobectomyProgressive natureEpilepsyBrain stimulationPatients
2023
4E-BP1 expression in embryonic postmitotic neurons mitigates mTORC1-induced cortical malformations and behavioral seizure severity but does not prevent epilepsy in mice
Nguyen L, Sharma M, Bordey A. 4E-BP1 expression in embryonic postmitotic neurons mitigates mTORC1-induced cortical malformations and behavioral seizure severity but does not prevent epilepsy in mice. Frontiers In Neuroscience 2023, 17: 1257056. PMID: 37680968, PMCID: PMC10480503, DOI: 10.3389/fnins.2023.1257056.Peer-Reviewed Original ResearchBehavioral seizure severityCortical malformationsSeizure frequencySeizure severityRadial gliaLayer 2/3 pyramidal neuronsCortical layer 2/3 pyramidal neuronsFocal cortical malformationsBehavioral seizuresNeuronal hypertrophyIntractable seizuresPyramidal neuronsSeizure activityRapamycin complex 1 (mTORC1) pathwayEctopic neuronsSeizure preventionMigratory neuronsWhite matterSeizuresNeuronsMalformationsMechanistic targetRecent evidenceSeverityEpilepsy
2021
Neuromodulation in epilepsy: state-of-the-art approved therapies
Ryvlin P, Rheims S, Hirsch LJ, Sokolov A, Jehi L. Neuromodulation in epilepsy: state-of-the-art approved therapies. The Lancet Neurology 2021, 20: 1038-1047. PMID: 34710360, DOI: 10.1016/s1474-4422(21)00300-8.Peer-Reviewed Original ResearchConceptsVagus nerve stimulationANT-DBSAdverse eventsNeuromodulation therapiesResponsive neurostimulationCurative surgical treatmentFrequent adverse eventsRefractory focal epilepsyHigh-level evidenceDeep brain stimulationForms of neuromodulationClosed-loop therapyAntiepileptic treatmentSeizure frequencySurgical treatmentNerve stimulationIntracranial hemorrhageIntractable seizuresEpileptogenic zoneFocal epilepsyAnterior nucleusLong-term reductionBrain stimulationTherapyImplant sites
2019
Challenges During Epilepsy Surgery in Pediatric Patients
Field R, Rosenbaum A, Kain Z. Challenges During Epilepsy Surgery in Pediatric Patients. 2019, 407-411. DOI: 10.1007/978-3-030-17410-1_63.Peer-Reviewed Original ResearchRefractory epilepsyIntractable seizuresPediatric refractory epilepsyPermanent brain injuryAnti-epileptic medicationsEarly surgical interventionSeverity of seizuresAnti-epileptic drugsCertain epileptic syndromesQuality of lifeBetter patient complianceEpilepsy presentsPediatric patientsEpileptic syndromesEpilepsy surgeryPoor prognosisSurgical interventionPharmacological treatmentCortical malformationsVascular abnormalitiesTherapeutic rangeBrain injuryFocal epilepsyCognitive dysfunctionCommon causeTreatment of drug-resistant epilepsy in patients with periventricular nodular heterotopia using RNS® System: Efficacy and description of chronic electrophysiological recordings
Nune G, Arcot Desai S, Razavi B, Agostini MA, Bergey GK, Herekar AA, Hirsch LJ, Lee RW, Rutecki PA, Srinivasan S, Van Ness PC, Tcheng TK, Morrell MJ. Treatment of drug-resistant epilepsy in patients with periventricular nodular heterotopia using RNS® System: Efficacy and description of chronic electrophysiological recordings. Clinical Neurophysiology 2019, 130: 1196-1207. PMID: 31163364, DOI: 10.1016/j.clinph.2019.04.706.Peer-Reviewed Original ResearchConceptsPeriventricular nodular heterotopiaClinical seizure frequencySeizure frequencySeizure rateNodular heterotopiaDirect brain-responsive neurostimulationBrain-responsive neurostimulationDrug-resistant epilepsyEffective treatment optionSeizure-onset patternsSeizure propagation patternsChronic electrophysiological recordingsSeizure reductionClinical seizuresSuch patientsElectrographic seizuresPattern of spreadIntractable seizuresTreatment optionsEpileptogenic networksSeizure generationOnset typeMean reductionLead locationPatients
2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Genomics T, Allori A, Angrist M, Ashley P, Bidegain M, Boyd B, Chambers E, Cope H, Cotten C, Curington T, Davis E, Ellestad S, Fisher K, French A, Gallentine W, Goldberg R, Hill K, Kansagra S, Katsanis N, Katsanis S, Kurtzberg J, Marcus J, McDonald M, Mikati M, Miller S, Murtha A, Perilla Y, Pizoli C, Purves T, Ross S, Sadeghpour A, Smith E, Wiener J, Corbett M, MacLennan A, Gecz J, Biskup S, Goldmann E, Rodan L, Kichula E, Segal E, Jackson K, Asamoah A, Dimmock D, McCarrier J, Botto L, Filloux F, Tvrdik T, Cascino G, Klingerman S, Neumann C, Wang R, Jacobsen J, Nolan M, Snell R, Lehnert K, Sadleir L, Anderlid B, Kvarnung M, Guerrini R, Friez M, Lyons M, Leonhard J, Kringlen G, Casas K, Achkar C, Smith L, Rotenberg A, Poduri A, Sanchis-Juan A, Carss K, Rankin J, Zeman A, Raymond F, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Study D, Hedrich U, Scheffer I, Helbig I, Zamponi G, Lerche H, Mefford H. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American Journal Of Human Genetics 2018, 103: 666-678. PMID: 30343943, PMCID: PMC6216110, DOI: 10.1016/j.ajhg.2018.09.006.Peer-Reviewed Original ResearchConceptsR-type calcium currentsEpileptic encephalopathyCalcium currentPathogenic variantsDevelopmental impairmentR-type calcium channelsDe novo pathogenic variantsCause of DEEProfound developmental impairmentHyperkinetic movement disordersNovo pathogenic variantsAnti-epileptic drug topiramateCentral nervous systemAbundant epileptiform activityVoltage-gated CaSevere neurodevelopmental disorderSeizure freedomInfantile-onset seizuresIntractable seizuresEpileptiform activityVoltage-dependent activationMovement disordersSevere hypotoniaHuman epilepsySynaptic transmission
2015
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome
Salih MA, Seidahmed MZ, Khashab H, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. PMID: 26203402, PMCID: PMC4502426, DOI: 10.7916/d8d21wq0.Peer-Reviewed Original ResearchMacular cherry-red spotsChildhood-onset choreaCherry-red spotWhole-exome sequencingMacular findingsProgressive choreaIntractable seizuresHomozygous missense mutationNeurodegenerative courseProfound hypotoniaRare formVolitional movementPhenotypic spectrumChoreaExome sequencingGM2 gangliosidosisHyperacusisPatientsSaudi familyNeurodegenerative disease genesMissense mutationsDisease-associated genesGangliosidosisHomozygosity mappingVariant phenotypesMutation in <i>GM2A</i> Leads to a Progressive Chorea-dementia Syndrome
Salih M, Seidahmed M, Khashab H, Hamad M, Bosley T, Burn S, Myers A, Landsverk M, Crotwell P, Bilguvar K, Mane S, Kruer M. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. DOI: 10.5334/tohm.246.Peer-Reviewed Original ResearchMacular cherry-red spotsChildhood-onset choreaCherry-red spotWhole-exome sequencingMacular findingsProgressive choreaIntractable seizuresHomozygous missense mutationNeurodegenerative courseProfound hypotoniaRare formVolitional movementPhenotypic spectrumChoreaExome sequencingGM2 gangliosidosisHyperacusisPatientsSaudi familyNeurodegenerative disease genesMissense mutationsGangliosidosisHomozygosity mappingVariant phenotypesMutationsSubstantial and sustained seizure reduction with ketogenic diet in a patient with Ohtahara syndrome
Sivaraju A, Nussbaum I, Cardoza CS, Mattson RH. Substantial and sustained seizure reduction with ketogenic diet in a patient with Ohtahara syndrome. Epilepsy & Behavior Reports 2015, 3: 43-45. PMID: 26005637, PMCID: PMC4436508, DOI: 10.1016/j.ebcr.2015.03.003.Peer-Reviewed Original ResearchOhtahara syndromeKetogenic dietSustained seizure reductionGroup of patientsSuppression-burst patternShorter survival periodSeizure reductionSeizure frequencyNeurodevelopmental outcomesIntractable seizuresTreatment modalitiesEmergency roomEpileptic encephalopathySurvival periodSyndromePatientsSeizuresSingle visitDietChildrenElectroencephalographyMedicationsEncephalopathyYearsDisease
2013
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy. Neuron 2013, 80: 429-441. PMID: 24139043, PMCID: PMC3820368, DOI: 10.1016/j.neuron.2013.08.013.Peer-Reviewed Original ResearchConceptsCongenital microcephalyProgressive cerebral atrophyStructural brain abnormalitiesCerebral atrophyNeuronal damageEnhanced excitabilityIntractable seizuresAsparagine depletionNeurological impairmentBrain abnormalitiesCortical thicknessLoss of functionASNS deficiencyProgressive formMutant micePatient phenotypesIntellectual disabilityASNS geneMicrocephalyMissense mutationsBrainDeficiencyAspartate/MutationsRecessive mutations
2011
Challenges During Epilepsy Surgery in Pediatric Patients
Rosenbaum A, Kain Z. Challenges During Epilepsy Surgery in Pediatric Patients. 2011, 531-538. DOI: 10.1007/978-0-387-09562-2_55.Peer-Reviewed Original ResearchRefractory epilepsyIntractable seizuresPediatric refractory epilepsyPermanent brain injuryEarly surgical interventionSeverity of seizuresAnti-epileptic drugsCertain epileptic syndromesQuality of lifeBetter patient complianceAntiepileptic medicationsPediatric patientsEpileptic syndromesEpilepsy surgeryPoor prognosisSurgical interventionPharmacological treatmentCortical malformationsVascular abnormalitiesTherapeutic rangeBrain injuryFocal epilepsyCognitive dysfunctionCommon causeSudden deathSingle-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice
Feliciano DM, Su T, Lopez J, Platel JC, Bordey A. Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice. Journal Of Clinical Investigation 2011, 121: 1596-1607. PMID: 21403402, PMCID: PMC3069783, DOI: 10.1172/jci44909.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAstrocytesBase SequenceCell SizeCerebral CortexDisease Models, AnimalDNA PrimersFemaleGene Knockout TechniquesMiceMice, 129 StrainMice, Inbred BALB CMice, Inbred C57BLMice, KnockoutMice, Mutant StrainsMice, TransgenicPregnancySeizuresTOR Serine-Threonine KinasesTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsConceptsTuberous sclerosis complexSeizure thresholdNeuronal populationsSigns of gliosisLower seizure thresholdContribution of astrocytesDiscrete neuronal populationsAutosomal dominant disorderHeterotopic nodulesCortical hyperexcitabilityCortical tubersCortical lesionsGlial reactivityIntractable seizuresCortical malformationsSoma sizeAnimal modelsTSC1 gene productAffected neuronsDendritic treeGiant cellsUtero electroporationMutant miceLesion formationMammalian target
2006
Differential Glutamate Dehydrogenase (GDH) Activity Profile in Patients with Temporal Lobe Epilepsy
Malthankar‐Phatak G, De Lanerolle N, Eid T, Spencer DD, Behar KL, Spencer SS, Kim JH, Lai JC. Differential Glutamate Dehydrogenase (GDH) Activity Profile in Patients with Temporal Lobe Epilepsy. Epilepsia 2006, 47: 1292-1299. PMID: 16922873, DOI: 10.1111/j.1528-1167.2006.00543.x.Peer-Reviewed Original ResearchConceptsTemporal lobe epilepsyLobe epilepsyMTLE groupLesion-associated temporal lobe epilepsyIntractable epilepsy patientsEnergy metabolismExcitotoxic effectsPathophysiologic mechanismsPatient groupIntractable seizuresHippocampal tissueMetabolism of glutamateEpilepsy patientsNeurotransmitter metabolismTemporal cortexEpilepsyHippocampusMetabolic statusCortexSignificant alterationsLDH activityPatientsMTLESeizuresGDH activity
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