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A new study from the Kahle Lab identifies new genes related to congenital hydrocephalus.

Kristopher Kahle, MD, assistant professor of neurosurgery and of cellular and molecular physiology at Yale School of Medicine, recently published a study describing a new compound that could reduce swelling in the brain caused by stroke or hydrocephalus.

Hydrocephalus is characterized by a dangerous buildup of pressure on the brain caused by excessive amounts of fluid. Researchers have long believed that the condition, which affects one of every thousand babies born, was caused by excessive production of cerebral spinal fluid or an inability of the brain to properly absorb it.

Clinically available drugs may help combat a potentially lethal form of hydrocephalus now treated mainly by brain surgery, a new Yale-led study has found.

Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus

Clinical presentation of disease by patients can lead to profoundly important discoveries about basic biology. In this case, a child with progressive, early-onset, motor neuropathy resulting in profound disability revealed a key role for the phosphorylation-mediated regulation of the K+-Cl− transporter KCC3 in the peripheral nervous system. Kahle et al. discovered a point mutation in the gene encoding KCC3 in the patient that prevented the transporter from being inhibited through phosphorylation and resulted in its constitutive activation. Mice expressing KCC3 with the same mutation had increased transporter activity and impaired locomotor function, suggesting that the normal function of peripheral neurons depends on the regulation of KCC3 function.

Knockout of WNK1 splice variant implicated in human disorder protects animals from pain, via effects on potassium-chloride co-transporter, restoration of GABA inhibitory action.

A mouse study finds that blocking a protein called WNK1 can improve pain from nerve injury.