Clinical phenotypes among patients with familial forms of Chiari malformation type 1.
Mekbib K, Muñoz W, Allington G, Zhao S, Mehta N, Fortes C, Shohfi J, Fan B, Nelson-Williams C, DeSpenza T, Butler W, Alper S, Jackson E, Kahle K. Clinical phenotypes among patients with familial forms of Chiari malformation type 1. Journal Of Neurosurgery Pediatrics 2025, 36: 109-118. PMID: 40315599, DOI: 10.3171/2025.1.peds24187.Peer-Reviewed Original ResearchConceptsChiari malformation type 1Connective tissue disordersClinical phenotypeNeurological comorbiditiesType 1Family membersCerebellar tonsillar herniationPatient-parent triosEhlers-Danlos syndromeWhole-exome sequencingNeck painTonsillar herniationCraniocervical junctionNeural compressionCSF obstructionTissue disordersUnivariate analysisCohort studyFamily historyClinical symptomsNeurosurgical managementNeurodevelopmental conditionsVariable symptomsForamen magnumPatients2096 Cerebellar Overgrowth Subtype of Chiari Malformation Type 1 and Genetic Dysregulation of PI3K Signaling
Mekbib K, Munoz W, Allington G, McGee S, Kiziltug E, DeSpenza T, Fortes C, Nelson-Williams C, Mehta N, Smith H, Zhao S, Shofi J, Ocken J, Reeves B, Greenberg A, Kundishora A, Moreno-De-Luca A, Jin S, Alper S, Lifton R, Butler W, Kahle K. 2096 Cerebellar Overgrowth Subtype of Chiari Malformation Type 1 and Genetic Dysregulation of PI3K Signaling. Neurosurgery 2025, 71: 272-272. DOI: 10.1227/neu.0000000000003360_2096.Peer-Reviewed Original ResearchDe novo variantsChiari malformation type 1PI3K signaling pathwaySingle-cell RNA-seq datasetsExome-wide significancePatient-parent triosRNA-seq datasetsGenetic dysregulationGene ontology analysisPI3K signalingPI3K enzymesPI3K pathwayExome-wideDysregulation of PI3K signalingGene setsTranscriptomic atlasOntology analysisType 1Phenotypic characterizationObstruction of CSF flowCompression of neural tissueGenesK signalingK pathwayMultiple variants
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