2024
184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry
DeSpenza T, Kizlitug E, Allington G, Barson D, O'Connor D, Robert S, Mekbib K, Singh A, Phan D, Nanda P, Mandino F, Constable T, Lake E, Carter B, Gunel M, Lifton R, Luikart B, Kahle K. 184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry. Neurosurgery 2024, 70: 46-46. DOI: 10.1227/neu.0000000000002809_184.Peer-Reviewed Original ResearchWhole-exome sequencingFetal ventriculomegalyCongenital hydrocephalusExome sequencingChoroid plexus hyperplasiaMutated genesCa2+ imagingMutant mouse modelsPTEN mutantsHuman fetal brainPten mutant miceSporadic CHCerebral ventriculomegalyCSF diversionObstructive hydrocephalusCH patientsCSF secretionPharmacological mTORC1 inhibitionNeurodevelopmental assessmentRadiographic biomarkersFetal brainPTEN mutationsAqueductal stenosisPTEN deletionVentriculomegaly
2023
345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing
Piwowarczyk P, Moyer Q, Mekbib K, Kappel A, Zhao S, Shohfi J, Smith H, Orbach D, See A, Smith E, Kahle K. 345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing. Neurosurgery 2023, 69: 55-55. DOI: 10.1227/neu.0000000000002375_345.Peer-Reviewed Original ResearchCapillary malformation-arteriovenous malformation syndromeHereditary hemorrhagic telangiectasiaStructural cardiac defectsCutaneous vascular lesionsCardiac defectsWhole-exome sequencingRecurrent epistaxisVascular abnormalitiesVascular lesionsArteriovenous malformationsGeneral populationExome sequencingRole of EphB4Patent ductus arteriosusBrain arteriovenous malformationsAtrial septal defectGalen malformationDuctus arteriosusClinical featuresInstitutional cohortMoyamoya diseaseVascular anomaliesSeptal defectVascular disordersNeurovascular disorder