2018 Highlights

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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 .......

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August, 2017

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...

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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.....

2018

Coletti, A. M., Singh, D., Kumar, S., Shafin, T. N., Briody, P. J., Babbitt, B. F., … Conover, J. C. (2018). Characterization of the ventricular-subventricular stem cell niche during human brain development. Development, dev.170100. http://doi.org/10.1242/dev.170100
Furey, C. G., Zeng, X., Dong, W., Jin, S. C., Choi, J., Timberlake, A. T., … Kahle, K. T. (2018). Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus. World Neurosurgery. http://doi.org/10.1016/j.wneu.2018.09.018
Furey, C. G., Choi, J., Jin, S. C., Zeng, X., Timberlake, A. T., Nelson-Williams, C., … Kahle, K. T. (2018). De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. Neuron, 99(2), 302–314.e4. http://doi.org/10.1016/j.neuron.2018.06.019
Subramanian, H. E., Mahajan, A., Sommaruga, S., Falcone, G. J., Kahle, K. T., & Matouk, C. C. (2018). The Subjective Experience of Patients Undergoing Shunt Surgery for Idiopathic Normal Pressure Hydrocephalus. World Neurosurgery. http://doi.org/10.1016/j.wneu.2018.06.209
Fomchenko, E. I., Duran, D., Jin, S. C., Dong, W., Erson-Omay, E. Z., Antwi, P., … Kahle, K. T. (2018). De novo MYH9 mutation in congenital scalp hemangioma. Molecular Case Studies, 4(4), a002998. http://doi.org/10.1101/mcs.a002998
Furey, C., Antwi, P., Duran, D., Timberlake, A. T., Nelson-Williams, C., Matouk, C. C., … Kahle, K. T. (2018). 9p24 triplication and 15q13 deletion in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus. Molecular Case Studies, mcs.a003145. http://doi.org/10.1101/mcs.a003145
Walcott, B. P., Winkler, E. A., Zhou, S., Birk, H., Guo, D., Koch, M. J., … Lawton, M. T. (2018). Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing. Human Genome Variation, 5, 18001. http://doi.org/10.1038/hgv.2018.1
Antwi, P., Hong, C. S., Duran, D., Jin, S. C., Dong, W., DiLuna, M., & Kahle, K. T. (2018). A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9. Molecular Case Studies, 4(3), a002766. http://doi.org/10.1101/mcs.a002766
Montejo, J. D., Camara-Quintana, J. Q., Duran, D., Rockefeller, J. M., Conine, S. B., Blaise, A. M., … DiLuna, M. L. (2018). Tubular approach to minimally invasive microdiscectomy for pediatric lumbar disc herniation. Journal of Neurosurgery: Pediatrics, 21(5), 449–455. http://doi.org/10.3171/2017.11.PEDS17293
Chesler, D., Bram, R., Antwi, P., Timberlake, A. T., DiLuna, M. L., & Kahle, K. T. (2018). Non-syndromic single-suture craniosynostosis in triplets. Child’s Nervous System, 34(6), 1241–1245. http://doi.org/10.1007/s00381-018-3754-5
Marks, A. M., Bindra, R. S., DiLuna, M. L., Huttner, A., Jairam, V., Kahle, K. T., & Kieran, M. W. (2018). Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib. Pediatric Blood & Cancer, 65(5), e26969. http://doi.org/10.1002/pbc.26969
Duran, D., Karschnia, P., Gaillard, J. R., Karimy, J. K., Youngblood, M. W., DiLuna, M. L., … Kahle, K. T. (2018). Human genetics and molecular mechanisms of vein of Galen malformation. Journal of Neurosurgery: Pediatrics, 21(4), 367–374. http://doi.org/10.3171/2017.9.PEDS17365
Penn, D. L., Lanpher, A. B., Klein, J. M., Kozakewich, H. P. W., Kahle, K. T., Smith, E. R., & Orbach, D. B. (2018). Multimodal treatment approach in a patient with multiple intracranial myxomatous aneurysms. Journal of Neurosurgery: Pediatrics, 21(3), 315–321. http://doi.org/10.3171/2017.9.PEDS17288