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NEW YORK – Researchers have uncovered genetic alterations associated with sporadic congenital hydrocephalus that help explain how the condition may arise in some patients. 

While some cases of hydrocephalus, which is marked by the accumulation of cerebrospinal fluid in the brain, stem from infection or other causes, others have no associated trigger. Studies have suggested some of these cases are genetic in origin, and previous studies have tied a handful of mutations in genes like L1CAM, MPDZ, CCDC88C, and AP1S2 to the condition. 

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