July 25, 2018
Volume 99, Issue 2
De novo Mutation in Genes Regulating Neural Stem Cell Fate in Congenital Hydrocephalus
Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical CSF shunting with substantial morbidity. CH pathogenesis is poorly understood. Exome sequencing of 125 CH trios .......
Volume 23, Issue 8
Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus
The choroid plexus epithelium (CPE) secretes higher volumes of fluid (cerebrospinal fluid, CSF) than any other epithelium and simultaneously functions as the blood–CSF barrier to gate immune cell entry into the central nervous system. Posthemorrhagic hydrocephalus...
Auguest 2, 2016
Volume 9, Issue 439
Peripheral motor neuropathy is associated with defective kinase regulation of KCC3 cotransporter
Using exome sequencing, we identified a de novo mutation (c.2971A>G; T991A) in SLC12A6, the gene encoding the K+-Cl− cotransporter KCC3, in a patient with an early-onset, progressive, and severe peripheral neuropathy primarily affecting motor neurons. Normally, the WNK kinase–dependent phosphorylation.....