Genomics of human congenital hydrocephalus
Kundishora AJ, Singh AK, Allington G, Duy PQ, Ryou J, Alper SL, Jin SC, Kahle KT. Genomics of human congenital hydrocephalus. Child's Nervous System 2021, 37: 3325-3340. PMID: 34232380, DOI: 10.1007/s00381-021-05230-8.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusBrain developmentPoor neurodevelopmental outcomesRecent whole-exome sequencing studiesPost-surgical patientsHuman congenital hydrocephalusPathogenesis of hydrocephalusCerebrospinal fluid accumulationDamaging de novoPrimary pathomechanismEarly brain developmentNeural stem cell growthNeurodevelopmental outcomesOutcome prognosticationHuman brain developmentCSF diversionTreatment stratificationWhole-exome sequencing studiesFluid accumulationBrain ventriclesClinical toolHydrocephalusGenetic counselingDisease mechanismsSubstantial minority