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2019 Highlights

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January 01, 2019

Volume 76, Issue 1

Familial Trigeminal Neuralgia Cases Implicate Genetic Factors in Disease Pathogenesis

Trigeminal neuralgia (TN), characterized by brief, recurrent paroxysms of lancinating pain in the distribution of 1 or more branches of the trigeminal nerve (fifth cranial nerve [CN V]), is one of the most common, severe, and likely overdiagnosed forms of neuropathic pain. For decades, neurosurgical dogma has stressed the role of neurovascular compression (NVC) of the centrally myelinated portion of the cisternal segment of CN V in disease...


February 06, 2019

Volume 101, Issue 3

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Normal vascular development includes the formation and specification of arteries, veins, and intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common and severe neonatal brain arterio-venous malformations, shunting arterial blood into the brain's deep venous system through aberrant direct connections. Exome sequencing of 55 VOGM probands, including 52 parent-offspring trios, revealed enrichment of rare...


April 01, 2019

Volume 25, Issue 4

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease

Recent whole exome sequencing studies in humans have provided novel insight into the importance of the ephrinB2-EphB4-RASA1 signaling axis in cerebrovascular development, corroborating and extending previous work in model systems. Here, we aim to review the human cerebrovascular phenotypes associated with ephrinB2-EphB4-RASA1 mutations, including those recently discovered in Vein of Galen malformation...


Elsamadicy AA, Koo AB, Lee M, et al. Reduced influence of affective disorders on perioperative complication rates, length of hospital stay, and healthcare costs following spinal fusion for adolescent idiopathic scoliosis [published online ahead of print, 2019 Sep 6]. J Neurosurg Pediatr. 2019;1-6. doi:10.3171/2019.7.PEDS19223
Fomchenko EI, Erson-Omay EZ, Kundishora AJ, et al. Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report [published online ahead of print, 2019 Oct 25]. J Neurosurg Pediatr. 2019;1-10. doi:10.3171/2019.8.PEDS18664
Elsamadicy AA, Koo AB, Kundishora AJ, et al. Impact of patient and hospital-level risk factors on extended length of stay following spinal fusion for adolescent idiopathic scoliosis [published online ahead of print, 2019 Aug 2]. J Neurosurg Pediatr. 2019;1-7. doi:10.3171/2019.5.PEDS19161
Lanni JS, Peal D, Ekstrom L, et al. Integrated K+ channel and K+Cl- cotransporter functions are required for the coordination of size and proportion during development. Dev Biol. 2019;456(2):164-178. doi:10.1016/j.ydbio.2019.08.016
Hong CS, Kundishora AJ, Kahle KT, Diluna ML. Teaching NeuroImages: Unilateral focal segmental hyperhidrosis from spinal tumor progression. Neurology. 2019;93(7):e729-e730. doi:10.1212/WNL.0000000000007950
Duy PQ, David WB, Kahle KT. Identification of KCC2 Mutations in Human Epilepsy Suggests Strategies for Therapeutic Transporter Modulation. Front Cell Neurosci. 2019;13:515. Published 2019 Nov 15. doi:10.3389/fncel.2019.00515
Hong CS, Camara-Quintana J, Kundishora AJ, Diluna ML, Kahle KT. Teaching NeuroImages: Spinal subdural hematoma in pediatric nonaccidental trauma. Neurology. 2019;93(5):e522-e523. doi:10.1212/WNL.0000000000007869
Huang H, Song S, Banerjee S, et al. The WNK-SPAK/OSR1 Kinases and the Cation-Chloride Cotransporters as Therapeutic Targets for Neurological Diseases. Aging Dis. 2019;10(3):626-636. Published 2019 Jun 1. doi:10.14336/AD.2018.0928
Zamponi GW. Tuning the regulator: Phosphorylation of KCC2 at two specific sites is critical for neurodevelopment. Sci Signal. 2019;12(603):eaay8960. Published 2019 Oct 15. doi:10.1126/scisignal.aay8960
Panchagnula S, Sularz AK, Kahle KT. Familial Trigeminal Neuralgia Cases Implicate Genetic Factors in Disease Pathogenesis. JAMA Neurol. 2019 Jan 1;76(1):9-10. doi: 10.1001/jamaneurol.2018.3322. PubMed PMID: 30398541.
Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. Neuron. 2019 Feb 6;101(3):429-443.e4. doi: 10.1016/j.neuron.2018.11.041. Epub 2018 Dec 18. PubMed PMID: 30578106.
Zeng X, Hunt A, Jin SC, Duran D, Gaillard J, Kahle KT. EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease. Trends Mol Med. 2019 Apr;25(4):265-286. doi: 10.1016/j.molmed.2019.01.009. Epub 2019 Feb 25. Review. PubMed PMID: 30819650; PubMed Central PMCID: PMC6456402.
Duy PQ, Furey CG, Kahle KT. Trim71/lin-41 Links an Ancient miRNA Pathway to Human Congenital Hydrocephalus. Trends Mol Med. 2019 Jun;25(6):467-469. doi: 10.1016/j.molmed.2019.03.004. Epub 2019 Apr 8. PubMed PMID: 30975633.
Date P, Ackermann P, Furey C, Fink IB, Jonas S, Khokha MK, Kahle KT, Deniz E. Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. Sci Rep. 2019 Apr 17;9(1):6196. doi: 10.1038/s41598-019-42549-4. PubMed PMID: 30996265; PubMed Central PMCID: PMC6470164.
Lalioti ME, Kaplani K, Lokka G, Georgomanolis T, Kyrousi C, Dong W, Dunbar A, Parlapani E, Damianidou E, Spassky N, Kahle KT, Papantonis A, Lygerou Z, Taraviras S. GemC1 is a critical switch for neural stem cell generation in the postnatal brain. Glia. 2019 Dec;67(12):2360-2373. doi: 10.1002/glia.23690. Epub 2019 Jul 22. PubMed PMID: 31328313.
Jin SC, Furey CG, Zeng X, Allocco A, Nelson-Williams C, Dong W, Karimy JK, Wang K, Ma S, Delpire E, Kahle KT. SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. Mol Genet Genomic Med. 2019 Sep;7(9):e892. doi: 10.1002/mgg3.892. Epub 2019 Aug 8. PubMed PMID: 31393094; PubMed Central PMCID: PMC6732308.
Pisella LI, Gaiarsa JL, Diabira D, Zhang J, Khalilov I, Duan J, Kahle KT, Medina I. Impaired regulation of KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathology. Sci Signal. 2019 Oct 15;12(603). pii: eaay0300. doi: 10.1126/scisignal.aay0300. PubMed PMID: 31615899.
Watanabe M, Zhang J, Mansuri MS, Duan J, Karimy JK, Delpire E, Alper SL, Lifton RP, Fukuda A, Kahle KT. Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival. Sci Signal. 2019 Oct 15;12(603). pii: eaaw9315. doi: 10.1126/scisignal.aaw9315. PubMed PMID: 31615901.
Allocco AA, Jin SC, Duy PQ, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT. Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3. Front Cell Neurosci. 2019 Sep 26;13:425. doi: 10.3389/fncel.2019.00425. eCollection 2019. PubMed PMID: 31616254; PubMed Central PMCID: PMC6775207.
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