2020
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine 2020, 26: 1754-1765. PMID: 33077954, PMCID: PMC7871900, DOI: 10.1038/s41591-020-1090-2.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusPoor neurodevelopmental outcomesPost-surgical patientsCerebrospinal fluid accumulationNeural stem cell biologyGenetic disruptionWhole-exome sequencingPrimary pathomechanismEarly brain developmentNeurodevelopmental outcomesHigh morbidityCSF diversionMutation burdenFluid accumulationBrain ventriclesCH casesBrain developmentDe novo mutationsPatientsExome sequencingCSF dynamicsDisease mechanismsHydrocephalusNovo mutationsCell types
2014
Volumetric brain analysis in neurosurgery: Part 2. Brain and CSF volumes discriminate neurocognitive outcomes in hydrocephalus.
Mandell J, Kulkarni A, Warf B, Schiff S. Volumetric brain analysis in neurosurgery: Part 2. Brain and CSF volumes discriminate neurocognitive outcomes in hydrocephalus. Journal Of Neurosurgery Pediatrics 2014, 15: 125-32. PMID: 25431901, DOI: 10.3171/2014.9.peds12427.Peer-Reviewed Original ResearchConceptsFrontal-occipital horn ratioNeurocognitive outcomesBrain volumeCSF volumeFluid volumePediatric patientsBrain developmentEvaluation of hydrocephalusGoal of treatmentSmaller brain volumesLower cognitive outcomesPoor neurocognitive outcomesNormal brain developmentLarge fluid volumesHealthy brain developmentVolumetric brain analysisSurgical treatmentVentricular sizeHydrocephalic patientsCT scanHydrocephalusPatientsBayley ScalesBrain growthFine motor
1997
Noninvasive assessment of language dominance in children and adolescents with functional MRI: a preliminary study.
Hertz-Pannier L, Gaillard W, Mott S, Cuenod C, Bookheimer S, Weinstein S, Conry J, Papero P, Schiff S, Bihan D, Theodore W. Noninvasive assessment of language dominance in children and adolescents with functional MRI: a preliminary study. Neurology 1997, 48: 1003-12. PMID: 9109891, DOI: 10.1212/wnl.48.4.1003.Peer-Reviewed Original ResearchConceptsFunctional magnetic resonance imagingElectrostimulation mappingLeft dominanceFunctional mapping techniquesMagnetic resonance imagingNoninvasive functional mappingRight-handed childrenLanguage dominanceBilateral languageHemodynamic changesEpilepsy surgeryPartial epilepsySurgery outcomesTemporal epilepsyAmobarbital testNeuronal activationWord generation taskFrontal lobeLanguage lateralizationRight dominanceNoninvasive assessmentResonance imagingFunctional MRISignal time courseBrain development