Scholars@Duke

• Background
• 

  Education, Training, & Certifications

  • Pediatric Neurology Fellowship, Pediatrics, Baylor College of Medicine 1983 - 1986
  • Residency, Pediatrics, Baylor College of Medicine 1981 - 1983
  • M.D., Duke University School of Medicine 1981
  • Ph.D., Duke University 1980
• 

  Previous Appointments & Affiliations

  • Adjunct Professor in the Department of Pediatrics, Pediatrics, Neurology, Pediatrics 2017 - 2018
• 

  Academic Positions Outside Duke

  • Professor Emeritus of Neurology and Pediatrics, University of Washington. 2017 - 2019
  • Professor of Neurology and Pediatrics, University of Washington. 2000 - 2017
• Publications & Artistic Works
• 

  Selected Publications

  • Academic Articles

    • Tseng, L. A., L. Teela, M. C. Janssen, L. A. Bok, M. A. A. P. Willemsen, R. F. Neuteboom, L. Haverman, S. M. Gospe, C. R. Coughlin, and C. D. M. van Karnebeek. “Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.” Molecular Genetics and Metabolism Reports 31 (June 1, 2022). https://doi.org/10.1016/j.ymgmr.2022.100853.
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    • Tseng, Laura A., Udo F. H. Engelke, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Charlotte A. Haaxma, David A. Koolen, Levinus A. Bok, et al. “Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.” Clinical Chemistry 68, no. 5 (May 18, 2022): 732–35. https://doi.org/10.1093/clinchem/hvab276.
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    • Deputy, Stephen R., Yasmin Khakoo, and Sidney M. Gospe. “Adverse Effects of War and Armed Conflict on Children.” Pediatr Neurol 130 (May 2022): 69–70. https://doi.org/10.1016/j.pediatrneurol.2022.03.006.
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    • Tseng, Laura A., Jose E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer, Daniela Buhas, et al. “Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.” Mol Genet Metab 135, no. 4 (April 2022): 350–56. https://doi.org/10.1016/j.ymgme.2022.02.005.
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    • Engelke, Udo Fh, Rianne E. van Outersterp, Jona Merx, Fred Amg van Geenen, Arno van Rooij, Giel Berden, Marleen Cdg Huigen, et al. “Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.” J Clin Invest 131, no. 15 (August 2, 2021). https://doi.org/10.1172/JCI148272.
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    • Coughlin, Curtis R., Laura A. Tseng, Jose E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, et al. “Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.” J Inherit Metab Dis 44, no. 1 (January 2021): 178–92. https://doi.org/10.1002/jimd.12332.
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    • Dixon, Sarah M., Michael M. Binkley, Sidney M. Gospe, and Réjean M. Guerriero. “Child Neurology Applicants Place Increasing Emphasis on Quality of Life Factors.” Pediatr Neurol 114 (January 2021): 42–46. https://doi.org/10.1016/j.pediatrneurol.2020.09.012.
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    • Bearer, Cynthia, Carlo Agostoni, Kanwaljeet J. S. Anand, Namasivayam Ambalavanan, Vineet Bhandari, Joseph M. Bliss, Frank Bloomfield, et al. “Toward the elimination of bias in Pediatric Research.” Pediatr Res 86, no. 6 (December 2019): 680–81. https://doi.org/10.1038/s41390-019-0583-5.
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    • Coughlin, Curtis R., Michael A. Swanson, Elaine Spector, Naomi J. L. Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, et al. “The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.” J Inherit Metab Dis 42, no. 2 (March 2019): 353–61. https://doi.org/10.1002/jimd.12045.
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    • Moler, Frank W., Faye S. Silverstein, Vinay M. Nadkarni, Kathleen L. Meert, Samir H. Shah, Beth Slomine, James Christensen, et al. “Pediatric out-of-hospital cardiac arrest: Time to goal target temperature and outcomes.” Resuscitation 135 (February 2019): 88–97. https://doi.org/10.1016/j.resuscitation.2018.12.012.
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    • Lo, Mark D., and Sidney M. Gospe. “Telemedicine and Child Neurology.” J Child Neurol 34, no. 1 (January 2019): 22–26. https://doi.org/10.1177/0883073818807516.
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    • Oesch, Gabriela, A Murat Maga, Seth D. Friedman, Sandra L. Poliachik, Christopher B. Budech, Jason N. Wright, Levinus A. Bok, and Sidney M. Gospe. “Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.” Neurology 91, no. 1 (July 3, 2018): e78–86. https://doi.org/10.1212/WNL.0000000000005748.
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    • Gospe, Sidney M. “Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early.” Eur J Paediatr Neurol 22, no. 4 (July 2018): 575–76. https://doi.org/10.1016/j.ejpn.2018.05.004.
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    • Rooy, R. L. P. de, F. J. Halbertsma, E. A. Struijs, F. J. van Spronsen, R. J. Lunsing, H. M. Schippers, P. M. van Hasselt, et al. “Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?” European Journal of Paediatric Neurology 22, no. 4 (July 2018): 662–66. https://doi.org/10.1016/j.ejpn.2018.03.009.
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    • Weisleder, Pedro, Sidney M. Gospe, Yu-Tze Ng, and Mustafa Sahin. “The Pediatric Neurology Trainee Publication Award for 2015.” Pediatr Neurol 63 (October 2016): 1–2. https://doi.org/10.1016/j.pediatrneurol.2016.07.004.
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    • Tuschl, Karin, Peter T. Clayton, Sidney M. Gospe, Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, et al. “Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.” Am J Hum Genet 99, no. 2 (August 4, 2016): 521. https://doi.org/10.1016/j.ajhg.2016.07.015.
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    • Byers, Heather M., Christopher W. Beatty, Si Houn Hahn, and Sidney M. Gospe. “Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.” Pediatr Neurol 60 (July 2016): 79–82. https://doi.org/10.1016/j.pediatrneurol.2016.03.012.
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    • Burns, Ted M., Gordon A. Smith, Jeffrey A. Allen, Anthony A. Amato, W David Arnold, Richard Barohn, Michael Benatar, et al. “Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.” Muscle Nerve 53, no. 2 (February 2016): 165–68. https://doi.org/10.1002/mus.25009.
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    • Poliachik, Sandra L., Seth D. Friedman, Andrew V. Poliakov, Christopher B. Budech, Gisele E. Ishak, Dennis W. W. Shaw, and Sidney M. Gospe. “Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy.” Pediatr Neurol 54 (January 2016): 43–48. https://doi.org/10.1016/j.pediatrneurol.2015.09.012.
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    • Mann, P. C., S. M. Gospe, K. J. Steinman, and B. S. Wilfond. “Integrating neurocritical care approaches into neonatology: should all infants be treated equitably?” J Perinatol 35, no. 12 (December 2015): 977–81. https://doi.org/10.1038/jp.2015.95.
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    • Bertini, Enrico, and Sidney M. Gospe. “SSADH deficiency in an adult: Venturing outside of the diagnostic box and inside of the registry.” Neurology 85, no. 10 (September 8, 2015): 842–43. https://doi.org/10.1212/WNL.0000000000001916.
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    • Arredondo, Juan, Marian Lara, Sídney M. Gospe, Claudio G. Mazia, Maria Vaccarezza, Marcela Garcia-Erro, Constance M. Bowe, Celia H. Chang, Michelle M. Mezei, and Ricardo A. Maselli. “Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.” Hum Mutat 36, no. 9 (September 2015): 881–93. https://doi.org/10.1002/humu.22823.
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    • Mefford, Heather C., Matthew Zemel, Eileen Geraghty, Joseph Cook, Peter T. Clayton, Karl Paul, Barbara Plecko, Philippa B. Mills, Douglas R. Nordli, and Sidney M. Gospe. “Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.” Neurology 85, no. 9 (September 1, 2015): 756–62. https://doi.org/10.1212/WNL.0000000000001883.
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    • Ng, Yu-Tze, Sidney M. Gospe, and Mustafa Sahin. “Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams.” Pediatr Neurol 53, no. 2 (August 2015): 103–4. https://doi.org/10.1016/j.pediatrneurol.2015.04.010.
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    • Friedman, Seth D., Gisele E. Ishak, Sandra L. Poliachik, Andrew V. Poliakov, Randolph K. Otto, Dennis W. W. Shaw, Michèl A. Willemsen, Levinus A. Bok, and Sidney M. Gospe. “Callosal alterations in pyridoxine-dependent epilepsy.” Dev Med Child Neurol 56, no. 11 (November 2014): 1106–10. https://doi.org/10.1111/dmcn.12511.
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    • Beatty, Christopher W., Ping-Ru Ko, Jason Nixon, and Sidney M. Gospe. “Delayed-onset movement disorder and encephalopathy after oxycodone ingestion.” Semin Pediatr Neurol 21, no. 2 (June 2014): 160–65. https://doi.org/10.1016/j.spen.2014.06.009.
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    • Pearl, Phillip L., and Sidney M. Gospe. “Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier.” Neurology 82, no. 16 (April 22, 2014): 1392–94. https://doi.org/10.1212/WNL.0000000000000351.
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    • Lechpammer, Mirna, Michael S. Clegg, Zukhrofi Muzar, Philip A. Huebner, Lee-Way Jin, and Sidney M. Gospe. “Pathology of inherited manganese transporter deficiency.” Ann Neurol 75, no. 4 (April 2014): 608–12. https://doi.org/10.1002/ana.24131.
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    • Richardson, Randal C., Jack C. Tarleton, Thomas D. Bird, and Sidney M. Gospe. “Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.” Muscle Nerve 49, no. 4 (April 2014): 593–600. https://doi.org/10.1002/mus.23976.
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    • Roach, E Steve, Sid Gospe, Yu-Tze Ng, and Mustafa Sahin. “Trust but verify: the introduction of plagiarism detection software.” Pediatr Neurol 50, no. 4 (April 2014): 287. https://doi.org/10.1016/j.pediatrneurol.2013.12.021.
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    • Segal, Michael M., Marc S. Williams, Andrea L. Gropman, Alcy R. Torres, Rob Forsyth, Anne M. Connolly, Ayman W. El-Hattab, et al. “Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup.” J Child Neurol 29, no. 4 (April 2014): 487–92. https://doi.org/10.1177/0883073813483365.
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    • Wallace, Stephanie E., Jessie H. Conta, Thomas L. Winder, Tobias Willer, Jamie M. Eskuri, Richard Haas, Kathleen Patterson, Kevin P. Campbell, Steven A. Moore, and Sidney M. Gospe. “A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.” Neuromuscul Disord 24, no. 4 (April 2014): 312–20. https://doi.org/10.1016/j.nmd.2014.01.001.
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    • Jansen, Laura A., Robert F. Hevner, William H. Roden, Si Houn Hahn, Sunhee Jung, and Sidney M. Gospe. “Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.” Ann Neurol 75, no. 1 (January 2014): 22–32. https://doi.org/10.1002/ana.24027.
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    • Karnebeek, Clara D. M. van, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, Birgit Assmann, Peter Baxter, Daniela Buhas, Levinus A. Bok, et al. “Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.” Jimd Rep 15 (2014): 1–11. https://doi.org/10.1007/8904_2014_296.
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    • Tully, Hannah M., Jennifer C. Dempsey, Gisele E. Ishak, Margaret P. Adam, Jonathan W. Mink, William B. Dobyns, Sidney M. Gospe, Avery Weiss, James O. Phillips, and Dan Doherty. “Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.” Mov Disord 28, no. 14 (December 2013): 2019–23. https://doi.org/10.1002/mds.25634.
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    • Jung, Sunhee, Nguyen-Thao B. Tran, Sidney M. Gospe, and Si Houn Hahn. “Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.” Mol Genet Metab 110, no. 3 (November 2013): 237–40. https://doi.org/10.1016/j.ymgme.2013.07.017.
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    • Mefford, Heather C., Joseph Cook, and Sidney M. Gospe. “Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.” Am J Med Genet A 158A, no. 12 (December 2012): 3190–95. https://doi.org/10.1002/ajmg.a.35633.
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    • Karnebeek, Clara D. M. van, Hans Hartmann, Sravan Jaggumantri, Levinus A. Bok, Barb Cheng, Mary Connolly, Curtis R. Coughlin, et al. “Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.” Mol Genet Metab 107, no. 3 (November 2012): 335–44. https://doi.org/10.1016/j.ymgme.2012.09.006.
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    • Gospe, Sidney M. “Natural history of pyridoxine-dependent epilepsy: tools for prognostication.” Dev Med Child Neurol 54, no. 9 (September 2012): 781–82. https://doi.org/10.1111/j.1469-8749.2012.04354.x.
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    • Tuschl, Karin, Peter T. Clayton, Sidney M. Gospe, Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, et al. “Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.” Am J Hum Genet 90, no. 3 (March 9, 2012): 457–66. https://doi.org/10.1016/j.ajhg.2012.01.018.
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    • Stockler, Sylvia, Barbara Plecko, Sidney M. Gospe, Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, et al. “Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.” Mol Genet Metab 104, no. 1–2 (September 2011): 48–60. https://doi.org/10.1016/j.ymgme.2011.05.014.
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    • Segal, Eric B., Zachary M. Grinspan, Arthur M. Mandel, and Sidney M. Gospe. “Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy.” Pediatr Neurol 44, no. 4 (April 2011): 289–91. https://doi.org/10.1016/j.pediatrneurol.2010.11.012.
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    • Martin, Emily T., Tara Kerin, Dimitri A. Christakis, Heidi K. Blume, Sidney M. Gospe, Jan Vinje, Michael D. Bowen, Jon Gentsch, and Danielle M. Zerr. “Redefining outcome of first seizures by acute illness.” Pediatrics 126, no. 6 (December 2010): e1477–84. https://doi.org/10.1542/peds.2010-1138.
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    • Soltanzadeh, Payam, Michael J. Friez, Diane Dunn, Andrew von Niederhausern, Olga L. Gurvich, Kathryn J. Swoboda, Jacinda B. Sampson, et al. “Clinical and genetic characterization of manifesting carriers of DMD mutations.” Neuromuscul Disord 20, no. 8 (August 2010): 499–504. https://doi.org/10.1016/j.nmd.2010.05.010.
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    • Gospe, Sidney M. “Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.” Dev Med Child Neurol 52, no. 7 (July 2010): 602–3. https://doi.org/10.1111/j.1469-8749.2010.03668.x.
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    • Gospe, Sidney M. “Neonatal vitamin-responsive epileptic encephalopathies.” Chang Gung Med J 33, no. 1 (January 2010): 1–12.
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    • Sadilkova, Katerina, Sidney M. Gospe, and Si Houn Hahn. “Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.” J Neurosci Methods 184, no. 1 (October 30, 2009): 136–41. https://doi.org/10.1016/j.jneumeth.2009.07.019.
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    • Basura, Gregory J., Shawn P. Hagland, Anna M. Wiltse, and Sidney M. Gospe. “Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.” Eur J Pediatr 168, no. 6 (June 2009): 697–704. https://doi.org/10.1007/s00431-008-0823-x.
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    • Bamford, Nigel S., Klane K. White, Stephanie A. Robinett, Randolph K. Otto, and Sidney M. Gospe. “Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.” Dev Med Child Neurol 51, no. 5 (May 2009): 408–11. https://doi.org/10.1111/j.1469-8749.2008.03234.x.
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    • Bennett, Craig L., Yingzhang Chen, Sihoun Hahn, Ian A. Glass, and Sidney M. Gospe. “Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.” Epilepsia 50, no. 5 (May 2009): 1167–75. https://doi.org/10.1111/j.1528-1167.2008.01816.x.
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    • Gospe, Sidney M., John A. Joyce, Joseph R. Siebert, Rhona M. Jack, and Kent E. Pinkerton. “Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure.” Reprod Toxicol 27, no. 1 (January 2009): 22–27. https://doi.org/10.1016/j.reprotox.2008.11.049.
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    • Bouldin, Anthony A., Melissa A. Parisi, Nigel Laing, Kathleen Patterson, and Sidney M. Gospe. “Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.” Muscle Nerve 35, no. 2 (February 2007): 254–58. https://doi.org/10.1002/mus.20662.
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    • Pearl, P. L., and S. M. Gospe. “Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.” J Inherit Metab Dis 30, no. 1 (February 2007): 2–4. https://doi.org/10.1007/s10545-008-9974-1.
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    • Gospe, Sidney M. “Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.” Curr Opin Neurol 19, no. 2 (April 2006): 148–53. https://doi.org/10.1097/01.wco.0000218230.81301.12.
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    • Barry, Peter A., Kristen M. Lockridge, Shariar Salamat, Steven P. Tinling, Yujuan Yue, Shan Shan Zhou, Sidney M. Gospe, William J. Britt, and Alice F. Tarantal. “Nonhuman primate models of intrauterine cytomegalovirus infection.” Ilar J 47, no. 1 (2006): 49–64. https://doi.org/10.1093/ilar.47.1.49.
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    • Bennett, C. L., H. M. Huynh, P. F. Chance, I. A. Glass, and S. M. Gospe. “Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.” Neurogenetics 6, no. 3 (September 2005): 143–49. https://doi.org/10.1007/s10048-005-0221-8.
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    • Gospe, Sidney M., and Robert M. S. Bell. “Hospital pharmacy and emergency department availability of parenteral pyridoxine.” Pediatr Emerg Care 21, no. 9 (September 2005): 586–88. https://doi.org/10.1097/01.pec.0000177194.37914.6c.
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    • Zerr, Danielle M., Heidi K. Blume, Anne T. Berg, Mark A. Del Beccaro, Sidney M. Gospe, Amanda L. Allpress, and Dimitri A. Christakis. “Nonfebrile illness seizures: a unique seizure category?” Epilepsia 46, no. 6 (June 2005): 952–55. https://doi.org/10.1111/j.1528-1167.2005.65204.x.
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    • Allan, Walter C., and Sidney M. Gospe. “Seizures, syncope, or breath-holding presenting to the pediatric neurologist--when is the etiology a life-threatening arrhythmia?” Semin Pediatr Neurol 12, no. 1 (March 2005): 2–9. https://doi.org/10.1016/j.spen.2004.11.004.
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    • Gospe, Sidney, and Peter Camfield. “Cardiac causes of sudden death: virtual panel discussion of posed questions.” Semin Pediatr Neurol 12, no. 1 (March 2005): 67–69. https://doi.org/10.1016/j.spen.2005.02.004.
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    • Baynes, Kathleen, Sarah Tomaszewski Farias, and Sidney M. Gospe. “Pyridoxine-dependent seizures and cognition in adulthood.” Dev Med Child Neurol 45, no. 11 (November 2003): 782–85. https://doi.org/10.1017/s0012162203001440.
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    • Gospe, Sidney M. “Pyridoxine-dependent seizures: findings from recent studies pose new questions.” Pediatr Neurol 26, no. 3 (March 2002): 181–85. https://doi.org/10.1016/s0887-8994(01)00407-6.
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    • Gospe, S. M., R. D. Caruso, M. S. Clegg, C. L. Keen, N. R. Pimstone, J. M. Ducore, S. S. Gettner, and R. A. Kreutzer. “Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis.” Arch Dis Child 83, no. 5 (November 2000): 439–42. https://doi.org/10.1136/adc.83.5.439.
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    • Battaglioli, G., D. R. Rosen, S. M. Gospe, and D. L. Martin. “Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures.” Neurology 55, no. 2 (July 25, 2000): 309–11. https://doi.org/10.1212/wnl.55.2.309.
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    • Gospe, S. M., and S. S. Zhou. “Prenatal exposure to toluene results in abnormal neurogenesis and migration in rat somatosensory cortex.” Pediatr Res 47, no. 3 (March 2000): 362–68. https://doi.org/10.1203/00006450-200003000-00013.
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    • Ebinger, M., C. Schultze, and S. König. “Demographics and diagnosis of pyridoxine-dependent seizures.” J Pediatr 134, no. 6 (June 1999): 795–96. https://doi.org/10.1016/s0022-3476(99)70307-0.
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    • Gospe, S. M. “Reply.” J Pediatr 134, no. 6 (June 1999): 795–96. https://doi.org/10.1016/s0022-3476(99)70308-2.
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    • Gospe, S. M., M. El-Schahawi, S. Shanske, C. Bruno, S. DiMauro, E. Hoye, D. A. Walsh, and F. A. Gorin. “Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.” Neurology 51, no. 4 (October 1998): 1228–29. https://doi.org/10.1212/wnl.51.4.1228.
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    • Gospe, S. M., and S. T. Hecht. “Longitudinal MRI findings in pyridoxine-dependent seizures.” Neurology 51, no. 1 (July 1998): 74–78. https://doi.org/10.1212/wnl.51.1.74.
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    • Gospe, S. M. “Current perspectives on pyridoxine-dependent seizures.” J Pediatr 132, no. 6 (June 1998): 919–23. https://doi.org/10.1016/s0022-3476(98)70384-1.
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    • Gospe, S. M., and S. S. Zhou. “Toluene abuse embryopathy: longitudinal neurodevelopmental effects of prenatal exposure to toluene in rats.” Reprod Toxicol 12, no. 2 (March 1998): 119–26. https://doi.org/10.1016/s0890-6238(97)00128-7.
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    • Shah Shan Zhou, Claude B., and J. Gospe. “Double labeling of proliferating neurons with anti-BrdU and anti-NeuN: An improved immunohistochemical technique utilizing microwave irradiation.” Journal of Histotechnology 21, no. 3 (January 1, 1998): 201–4. https://doi.org/10.1179/his.1998.21.3.201.
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    • Bakshi, N., R. A. Maselli, S. M. Gospe, W. G. Ellis, C. McDonald, and R. N. Mandler. “Fulminant demyelinating neuropathy mimicking cerebral death.” Muscle Nerve 20, no. 12 (December 1997): 1595–97. https://doi.org/10.1002/(sici)1097-4598(199712)20:12<1595::aid-mus17>3.0.co;2-#.
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    • Bakerink, J. A., S. M. Gospe, R. J. Dimand, and M. W. Eldridge. “Multiple organ failure after ingestion of pennyroyal oil from herbal tea in two infants.” Pediatrics 98, no. 5 (November 1996): 944–47.
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    • Gospe, S. M., S. S. Zhou, D. B. Saeed, and F. J. Zeman. “Development of a rat model of toluene-abuse embryopathy.” Pediatr Res 40, no. 1 (July 1996): 82–87. https://doi.org/10.1203/00006450-199607000-00015.
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    • Lowe, D. W., S. M. Gospe, and S. T. Hecht. “Spinal arteriovenous malformation presenting as meningitis.” Dev Med Child Neurol 38, no. 6 (June 1996): 549–53. https://doi.org/10.1111/j.1469-8749.1996.tb12116.x.
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    • Gospe, S. M., S. S. Zhou, and K. E. Pinkerton. “Effects of environmental tobacco smoke exposure in utero and/or postnatally on brain development.” Pediatr Res 39, no. 3 (March 1996): 494–98. https://doi.org/10.1203/00006450-199603000-00018.
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    • Gospe, S. M., D. W. Gietzen, P. J. Summers, J. M. Lunetta, J. W. Miller, J. Selhub, W. G. Ellis, and A. J. Clifford. “Behavioral and neurochemical changes in folate-deficient mice.” Physiol Behav 58, no. 5 (November 1995): 935–41. https://doi.org/10.1016/0031-9384(95)00156-d.
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    • Gospe, S. M. “Transient cortical blindness in an infant exposed to methamphetamine.” Ann Emerg Med 26, no. 3 (September 1995): 380–82. https://doi.org/10.1016/s0196-0644(95)70090-0.
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    • Tedeschi, G., R. Schiffmann, N. W. Barton, H. H. Shih, S. M. Gospe, R. O. Brady, J. R. Alger, and G. Di Chiro. “Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination.” Neurology 45, no. 8 (August 1995): 1526–32. https://doi.org/10.1212/wnl.45.8.1526.
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    • Engel, D. G., S. M. Gospe, K. A. Tracy, W. G. Ellis, and J. T. Lie. “Fatal infantile polyarteritis nodosa with predominant central nervous system involvement.” Stroke 26, no. 4 (April 1995): 699–701. https://doi.org/10.1161/01.str.26.4.699.
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    • Pranzatelli, M. R., Y. Huang, E. Tate, M. Stanley, M. J. Noetzel, S. M. Gospe, and K. Banasiak. “Cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in the pediatric opsoclonus-myoclonus syndrome.” Ann Neurol 37, no. 2 (February 1995): 189–97. https://doi.org/10.1002/ana.410370209.
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    • Gospe, S. M., D. B. Saeed, S. S. Zhou, and F. J. Zeman. “The effects of high-dose toluene on embryonic development in the rat.” Pediatr Res 36, no. 6 (December 1994): 811–15. https://doi.org/10.1203/00006450-199412000-00023.
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    • Jones, A. D., M. R. Dunlap, and S. M. Gospe. “Stable-isotope dilution GC-MS for determination of toluene in submilliliter volumes of whole blood.” J Anal Toxicol 18, no. 5 (September 1994): 251–54. https://doi.org/10.1093/jat/18.5.251.
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    • Gospe, S. M., K. L. Olin, and C. L. Keen. “Reduced GABA synthesis in pyridoxine-dependent seizures.” Lancet 343, no. 8906 (May 7, 1994): 1133–34. https://doi.org/10.1016/s0140-6736(94)90236-4.
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    • Gospe, S. M., and M. A. S. Al-Bayati. “Comparison of oral and inhalation exposures to toluene.” Journal of the American College of Toxicology 13, no. 1 (January 1, 1994): 21–32. https://doi.org/10.3109/10915819409140651.
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    • Kurowski, H. L., S. M. Gospe, F. J. Zeman, and L. E. Grivetti. “Nutritional factors and anticonvulsant therapies: effect on growth in children with epilepsy.” Am J Clin Nutr 58, no. 6 (December 1993): 858–61. https://doi.org/10.1093/ajcn/58.6.858.
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    • Hansen, R. L., J. M. Struthers, and S. M. Gospe. “Visual evoked potentials and visual processing in stimulant drug-exposed infants.” Dev Med Child Neurol 35, no. 9 (September 1993): 798–805. https://doi.org/10.1111/j.1469-8749.1993.tb11731.x.
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    • Saeed, D., B. W. Goetzman, and S. M. Gospe. “Brain injury and protective effects of hypothermia using triphenyltetrazolium chloride in neonatal rat.” Pediatr Neurol 9, no. 4 (July 1993): 263–67. https://doi.org/10.1016/0887-8994(93)90061-g.
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    • Wennberg, R. P., S. M. Gospe, W. D. Rhine, M. Seyal, D. Saeed, and G. Sosa. “Brainstem bilirubin toxicity in the newborn primate may be promoted and reversed by modulating PCO2.” Pediatr Res 34, no. 1 (July 1993): 6–9. https://doi.org/10.1203/00006450-199307000-00002.
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    • Gospe, S. M. “Routine monitoring of the electrocardiogram Q-T interval in the EEG laboratory.” American Journal of Eeg Technology 32, no. 1 (January 1, 1992): 58–64. https://doi.org/10.1080/00029238.1992.11080392.
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    • Gospe, S. M. “A pediatrician's personal reflections on varicella.” Pediatrics 86, no. 3 (September 1990): 494.
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    • Gospe, S. M., and A. J. Gabor. “Electroencephalography laboratory diagnosis of prolonged QT interval.” Ann Neurol 28, no. 3 (September 1990): 387–90. https://doi.org/10.1002/ana.410280315.
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    • Gospe, S. M. “Toluene dementia.” Neurology 40, no. 8 (August 1990): 1320–21. https://doi.org/10.1212/wnl.40.8.1320-b.
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    • Gospe, S. M., B. J. Mora, and S. D. Glick. “Measurement of spontaneous rotational movement (circling) in normal children.” J Child Neurol 5, no. 1 (January 1990): 31–34. https://doi.org/10.1177/088307389000500106.
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    • Gospe, S. M., R. P. Lazaro, N. S. Lava, P. M. Grootscholten, M. O. Scott, and K. H. Fischbeck. “Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.” Neurology 39, no. 10 (October 1989): 1277–80. https://doi.org/10.1212/wnl.39.10.1277.
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    • Gospe, S. M., and M. Choy. “Hereditary long Q-T syndrome presenting as epilepsy: electroencephalography laboratory diagnosis.” Ann Neurol 25, no. 5 (May 1989): 514–16. https://doi.org/10.1002/ana.410250518.
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    • McGuire, S. A., S. M. Gospe, and G. Dahl. “Acute vincristine neurotoxicity in the presence of hereditary motor and sensory neuropathy type I.” Med Pediatr Oncol 17, no. 6 (1989): 520–23. https://doi.org/10.1002/mpo.2950170534.
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    • Gospe, S. M., and M. J. Calaban. “Central nervous system distribution of inhaled toluene.” Toxicological Sciences 11, no. 1 (December 1, 1988): 540–45. https://doi.org/10.1093/toxsci/11.1.540.
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    • Van Antwerpen, C. L., S. M. Gospe, and N. A. Wade. “Myeloradiculopathy associated with wasp sting.” Pediatr Neurol 4, no. 6 (November 1988): 379–80. https://doi.org/10.1016/0887-8994(88)90088-4.
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    • Gospe, S. M., and M. J. Calaban. “Central nervous system distribution of inhaled toluene.” Fundam Appl Toxicol 11, no. 3 (October 1988): 540–45. https://doi.org/10.1016/0272-0590(88)90118-2.
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    • Van Antwerpen, C. L., S. M. Gospe, and M. P. Dentinger. “Nemaline myopathy associated with hypertrophic cardiomyopathy.” Pediatr Neurol 4, no. 5 (September 1988): 306–8. https://doi.org/10.1016/0887-8994(88)90071-9.
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    • Gospe, S. M., D. L. Armstrong, M. V. Gresik, and H. K. Hawkins. “Life-threatening congestive heart failure as the presentation of centronuclear myopathy.” Pediatr Neurol 3, no. 2 (March 1987): 117–20. https://doi.org/10.1016/0887-8994(87)90040-3.
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    • Hrachovy, R. A., J. D. Frost, S. M. Gospe, and D. G. Glaze. “Infantile spasms following near-drowning: a report of two cases.” Epilepsia 28, no. 1 (January 1987): 45–48. https://doi.org/10.1111/j.1528-1157.1987.tb03621.x.
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    • Gospe, S. M., and J. Jankovic. “Drug-induced dystonia in neuronal ceroid-lipofuscinosis.” Pediatr Neurol 2, no. 4 (July 1986): 236–37. https://doi.org/10.1016/0887-8994(86)90054-8.
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    • Gospe, S. M. “Studies of dopamine pharmacology in molluscs.” Life Sci 33, no. 20 (November 14, 1983): 1945–57. https://doi.org/10.1016/0024-3205(83)90732-4.
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    • Gospe, S. M., and W. A. Wilson. “Burst-firing inhibition of cell R 15 in Aplysia californica: Pharmacological studies of the effects of tyramine, β-phenethylamine and D-amphetamine.” Comparative Biochemistry and Physiology. Part C, Comparative 71, no. 2 (January 1, 1982): 249–54. https://doi.org/10.1016/0306-4492(82)90044-2.
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    • Gospe, S. M., and W. A. Wilson. “Pharmacological studies of a novel dopamine-sensitive receptor mediating burst-firing inhibition of neurosecretory cell R 15 in Aplysia californica.” J Pharmacol Exp Ther 216, no. 2 (February 1981): 368–77.
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    • Gospe, S. M., L. L. Cook, K. A. Crutcher, and W. A. Wilson. “Biochemical and histochemical studies of the effect of reserpine in Aplysia californica.” Comparative Biochemistry and Physiology. Part C, Comparative 70, no. 2 (January 1, 1981): 273–76. https://doi.org/10.1016/0306-4492(81)90063-0.
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    • Gospe, S. M., and W. A. Wilson. “Dopamine inhibits burst-firing of neurosecretory cell R 15 in Aplysia californica: establishment of a dose-response relationship.” J Pharmacol Exp Ther 214, no. 1 (July 1980): 112–18.
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    • Gospe, S. M., and W. A. Wilson. “Inhibition of burst-firing in cell R 15 of Aplysia californica: Effects of catecholamine releasing agents.” Neuroscience Letters 19, no. SUPPL. 5 (January 1, 1980).
    • Gospe, S. M., R. R. Bias, and S. R. Winkler. “The Edgemont Community Clinic: Durham's student-operated free clinic begins its second decade.” N C Med J 40, no. 6 (June 1979): 357–61.
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    • Snapp, B. D., H. C. Heller, and S. M. Gospe. “Hypothalamic thermosensitivity in California quail (Lophortyx californicus).” Journal of Comparative Physiology ■ B 117, no. 3 (January 1, 1977): 345–57. https://doi.org/10.1007/BF00691560.
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  • Book Sections

    • Karnebeek, C., I. A. Pena, and S. M. Gospe. “Disorders of pyridoxine metabolism.” In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1, 711–28, 2020. https://doi.org/10.1016/B978-0-12-813955-4.00053-2.
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    • Marin-Valencia, I., and S. M. Gospe. “Disorders of manganese transport.” In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1, 643–55, 2020. https://doi.org/10.1016/B978-0-12-813955-4.00048-9.
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    • Natarajan, N., and S. M. Gospe. “Neonatal Seizures.” In Avery’s Diseases of the Newborn: Tenth Edition, 961-970.e4, 2018. https://doi.org/10.1016/B978-0-323-40139-5.00065-6.
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    • Van Karnebeek, C., and S. M. Gospe. “Disorders of Pyridoxine Metabolism.” In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition, 541–55, 2014. https://doi.org/10.1016/B978-0-12-410529-4.00049-8.
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    • Gospe, S. M. “Pyridoxine-dependent epilepsy.” In The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children, 237–41, 2011. https://doi.org/10.1017/CBO9780511921001.035.
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    • Firestone, J. A., and S. M. Gospe. “Organic solvents.” In Clinical Neurotoxicology: Syndromes, Substances, Environments, 401–14, 2009. https://doi.org/10.1016/B978-032305260-3.50041-1.
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    • Gospe, S. M. “Other organic chemicals.” In Clinical Neurotoxicology: Syndromes, Substances, Environments, 415–20, 2009. https://doi.org/10.1016/B978-032305260-3.50042-3.
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  • Conference Papers

    • Tuschl, K., P. T. Clayton, S. M. Gospe, G. Shamshad, S. Ibrahim, P. Singhi, R. T. Ribeiro, et al. “The first inborn error of manganese metabolism caused by mutations in SLC30A10, a newly identified manganese transporter.” In Lancet, 381:110–110. ELSEVIER SCIENCE INC, 2013.
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    • Ishak, G. E., S. D. Friedman, A. Poliakov, S. L. Poliachik, D. W. W. Shaw, and S. M. Gospe. “CALLOSAL AND WHITE MATTER FEATURES IN PYRIDOXINE-DEPENDENT EPILEPSY (PDE).” In Journal of Inherited Metabolic Disease, 35:S136–S136. SPRINGER, 2012.
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    • Tuschl, K., P. T. Clayton, S. M. Gospe, G. Shamshad, S. Ibrahim, P. Singhi, R. T. Ribeiro, et al. “Syndrome of hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia - Caused by mutations in SLC30A10, a manganese transporter in man.” In Movement Disorders, 27:S77–S77. WILEY-BLACKWELL, 2012.
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    • Jansen, L. A., R. F. Hevner, W. H. Roden, S. Hahn, S. Jung, and S. M. Gospe. “Disruption of Antiquitin (ALDH7A1) Function in Astrocytes is Associated with Neuronal Migration Defects in Pyridoxine-Dependent Epilepsy.” In Annals of Neurology, 72:S218–19. WILEY-BLACKWELL, 2012.
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    • Segal, M. M., M. S. Williams, A. L. Gropman, A. R. Torres, R. Forsyth, A. M. Connolly, A. W. El-Hattab, et al. “An Evidence-Based, Open-Database Approach to Pediatric Neurologic Diagnostic Decision Support Reduces Errors in Diagnosis and Testing.” In Annals of Neurology, 72:S186–S186. WILEY-BLACKWELL, 2012.
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    • Tuschl, K., P. B. Mills, G. Shamshad, P. Singhi, R. Ribeiro, M. Zaki, S. Dyack, S. M. Gospe, R. Wevers, and P. T. Clayton. “SYNDROME OF HYPERMANGANESAEMIA, DYSTONIA AND LIVER CIRRHOSIS-PHENOTYPES OF 14 NEW PATIENTS.” In Journal of Inherited Metabolic Disease, 34:S266–S266. SPRINGER, 2011.
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    • Hahn, S. H., K. Sadilkova, S. Kerfoot, and S. M. Gospe. “BIOMARKER ANALYSIS FOR PYRIDOXINE DEPENDENT SEIZURES AND FOLINIC ACID RESPONSIVE SEIZURES.” In Molecular Genetics and Metabolism, 98:131–131. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2009.
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    • Richardson, Randal C., Jack C. Tarleton, Thomas D. Bird, and Sidney M. Gospe. “Variable Heritability of Truncating CLCN1 Mutations in Myotonia Congenita.” In Neurology, 72:A21–A21. LIPPINCOTT WILLIAMS & WILKINS, 2009.
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    • Martin, E., A. Adler, H. Blume, J. Gentsch, D. Christakis, A. Berg, S. Gospe, and D. Zerr. “Gastrointestinal illness and first-time seizures in children.” In American Journal of Epidemiology, 167:S17–S17. OXFORD UNIV PRESS INC, 2008.
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    • Martin, Emily T., A. Adler, H. Blume, J. Gentsch, D. Christakis, A. Berg, S. Gospe, and D. Zerr. “GASTROINTESTINAL ILLNESS AND FIRST-TIME SEIZURES IN CHILDREN.” In Epilepsia, 49:226–226, 2008.
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    • Zerr, D. M., H. K. Blume, M. A. DelBeccaro, S. M. Gospe, A. Allpress, and D. A. Christakis. “Nonfebrile provoked seizures: A unique seizure category?” In Pediatric Research, 55:426A-427A. INT PEDIATRIC RESEARCH FOUNDATION, INC, 2004.
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    • Bennett, C., H. Huynh, I. Glass, and S. Gospe. “Genetic heterogeneity for pyridoxine dependent seizures.” In American Journal of Human Genetics, 73:571–571. UNIV CHICAGO PRESS, 2003.
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    • Gospe, Sidney M., and Shan Shan Zhou. “Prenatal Exposure to Toluene Results in Abnormal Neuronal Proliferation and Migration.” In Pediatric Research, 45:342A-342A. Springer Science and Business Media LLC, 1999. https://doi.org/10.1203/00006450-199904020-02031.
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    • Bespalova, I. N., S. Adkins, N. A. Malygina, E. D. Markova, M. Dietrich, M. Pranzatelli, S. M. Gospe, and M. Burmeister. “Cystatin B mutations in Unverricht-Lundborg Progressive Myoclonus Epilepsy (EPM1) patients: intrafamilial instability and genotype/phenotype correlations.” In American Journal of Human Genetics, 61:A327–A327. CELL PRESS, 1997.
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    • Gospe, S. M., and S. T. Hecht. “Longitudinal MRI findings in pyridoxine-dependent seizures.” In Annals of Neurology, 42:P38–P38. LIPPINCOTT-RAVEN PUBL, 1997.
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    • Phillips, S. A., B. Peca, D. Jenkins, and S. Gospe. “Etiology of acute hemiplegia in institutionalized developmentally disabled patients.” In Annals of Neurology, 42:T192–T192. LIPPINCOTT-RAVEN PUBL, 1997.
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    • Gospe, S. M., M. ElSchahawi, S. Shanske, C. Bruno, S. DiMauro, E. Hoye, D. A. Walsh, and F. A. Gorin. “Asymptomatic patient with myophosphorylase deficiency, high CK, and the L396P mutation.” In Neurology, 48:5113–5113. LIPPINCOTT-RAVEN PUBL, 1997.
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    • Phillips, S. A., J. Carter, D. Jenkins, E. K. Lee, and S. M. Gospe. “Etiology of status epilepticus in institutionalized developmentally disabled clients.” In Neurology, 46:5053–5053. LITTLE BROWN CO, 1996.
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    • GOSPE, S. M., S. S. ZHOU, and K. E. PINKERTON. “EFFECTS OF ENVIRONMENTAL TOBACCO-SMOKE EXPOSURE IN-UTERO AND OR POSTNATALLY ON BRAIN-DEVELOPMENT.” In Pediatric Research, 37:A82–A82. WILLIAMS & WILKINS, 1995.
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    • GOSPE, S. M., D. W. GIETZEN, P. J. SUMMERS, J. M. LUNETTA, J. SELHUB, W. G. ELLIS, and A. J. CLIFFORD. “FOLATE-DEPLETION AND FOOD SPILLING IN MICE - NEUROCHEMICAL AND NEUROPATHOLOGICAL STUDIES.” In Faseb Journal, 8:A738–A738. FEDERATION AMER SOC EXP BIOL, 1994.
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    • GOSPE, S. M., D. B. SAEED, S. S. ZHOU, and F. J. ZEMAN. “EFFECTS OF PRENATAL TOLUENE EXPOSURE ON BRAIN-DEVELOPMENT - AN ANIMAL-MODEL OF TOLUENE EMBRYOPATHY (FETAL SOLVENTS SYNDROME).” In Annals of Neurology, 30:489–489. LITTLE BROWN CO, 1991.
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    • GOSPE, S. M., D. B. SAEED, and F. J. ZEMAN. “DEVELOPMENT OF AN ANIMAL-MODEL OF TOLUENE EMBRYOPATHY (FETAL SOLVENTS SYNDROME).” In Pediatric Research, 29:A69–A69. WILLIAMS & WILKINS, 1991.
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    • GOSPE, S. M., and A. J. GABOR. “ELECTROENCEPHALOGRAPHY LABORATORY DIAGNOSIS OF PROLONGED QT INTERVAL.” In Annals of Neurology, 28:469–469. LITTLE BROWN CO, 1990.
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    • GOSPE, S. M., R. P. LAZARO, N. S. LAVA, D. M. GROOTSCHOLTEN, M. O. SCOTT, and K. H. FISCHBECK. “FAMILIAL X-LINKED MYALGIA AND CRAMPS - A NONPROGRESSIVE MYOPATHY ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE.” In Annals of Neurology, 26:466–466. LITTLE BROWN CO, 1989.
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    • GOSPE, S. M., B. J. MORA, and S. D. GLICK. “MEASUREMENT OF SPONTANEOUS ROTATIONAL MOVEMENT (CIRCLING) IN NORMAL-CHILDREN.” In Annals of Neurology, 24:333–333. LITTLE BROWN CO, 1988.
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    • GOSPE, S. M., D. G. GLAZE, R. A. HRACHOVY, and J. D. FROST. “DEVELOPMENT OF INFANTILE SPASMS IN SURVIVORS OF NEAR-DROWNING OCCURRING AFTER THE 1ST YEAR OF LIFE.” In Neurology, 36:337–337. LIPPINCOTT-RAVEN PUBL, 1986.
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    • GOSPE, S. M., D. L. ARMSTRONG, and M. V. GRESIK. “PROFOUND CONGESTIVE HEART-FAILURE AS THE PRESENTATION OF CENTRONUCLEAR MYOPATHY.” In Annals of Neurology, 18:401–2. LIPPINCOTT-RAVEN PUBL, 1985.
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    • GOSPE, S. M., and W. A. WILSON. “DOPAMINE INHIBITS BURST-FIRING IN CELL R 15 OF APLYSIA-CALIFORNICA - STUDIES OF AGONIST AND ANTAGONIST COMPOUNDS.” In Federation Proceedings, 39:617–617. FEDERATION AMER SOC EXP BIOL, 1980.
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