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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 and 52 additional probands identified three genes with significant burden of rare damaging de novo or transmitted mutations...


October 26, 2018

Volume 145, Issue 20

Characterization of the ventricular-subventricular stem cell niche during human brain development

Human brain development proceeds via a sequentially transforming stem cell population in the ventricular-subventricular zone (V-SVZ). An essential, but understudied, contributor to V-SVZ stem cell niche health is the multi-ciliated ependymal epithelium, which replaces stem cells at the ventricular surface during development. However, reorganization of the V-SVZ stem cell niche and its relationship to ependymogenesis has not...


May 01, 2018

Volume 65, Issue 5

Response to the BRAF/ MEK inhibitors dabrafenib/ trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib

Efficacy of BRAF V600E targeted therapies in brain tumors harboring the mutation has been shown in several case reports and is currently being studied in larger clinical trials. Monotherapy with vemurafenib has been associated with significant side effects, including rashes, papillomas, and squamous cell carcinomas. Here we describe an adolescent female with...


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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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