Article Sidebar

Journal of the international Child Neurology Association Issue 2019
Submitted
November 18, 2018
Accepted
January 5, 2019
Published
November 18, 2019
Download
PDF HTML
Statistic
Read Counter : 1222 Download : 663

Downloads

Download data is not yet available.

Main Article Content

Abstract

We stand on the shoulders of giants on the threshold of many new exciting developments in the field of child neurology due to innovations in clinical approach, diagnostic technologies and treatment strategies. There are many exciting new technologies, but we must never forget the power of clinical medicine which allows us to interpret and use these tools with precision and with clinical wisdom. Strong collaborations continue to be needed: between clinicians for the meticulous clinical phenotyping, expansion of the range of phenotypic expression, and the entry of patients into international RCTs (randomised controlled trials); between the biochemists for the biochemical phenotyping and understanding of the basic pathophysiology of the underlying dysregulations and disease mechanisms arising from the protein dysfunctions and the development of robust biomarkers, to evaluate disease severity and response to therapies; and between the geneticists for the understanding of the impact of the exonic or intronic mutations, roles of other regulatory genes on the affected pathway, and epigenetic factors. These collaborations in the aggregate will lead the field forward in terms of increased insight into disease pathophysiology for the development of targeted precision medicine treatment strategies and effective preventative measures. This review is meant to highlight certain selected areas of future development and is not meant to be a comprehensive survey beyond the scope of this review. The subspecialty areas which will be highlighted will include intellectual disability, epilepsy, neuroprotection, neonatal and fetal neurology, CNS infections, headache, autoimmune/inflammatory disorders, demyelinating disorders, stroke, movement disorders, neurotransmitter defects, neuromuscular diseases, neurometabolic disorders, neurogenetic diseases, neuropsychiatry/autism, and neurooncology. In each subspecialty area, I will endeavor to identify emerging diseases, new specific diagnostic technologies and novel therapeutic approaches, but will need to be selective. This review is the culmination of a literature survey for current developments, discussions with leaders in each of the subspecialty fields, who I will acknowledge at the end, and certain personal projections.

Article Details

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

How to Cite
Tein, I. (2019). Expected future developments in child neurology. Journal of the International Child Neurology Association, 1(1). https://doi.org/10.17724/jicna.2019.158
Download Citation
Endnote/Zotero/Mendeley (RIS)
BibTeX

References

  1. Aartsma-Rus A, van Ommen GJ. Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA. 2007 Oct;13(10):1609-24. Review.
  2. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7:248-9. doi: 10.1038/nmeth0410-248.
  3. Ahmed K, Oas KH, Mack KJ, Garza I. Experience with botulinum toxin type A in medically intractable pediatric chronic daily headache. Pediatr Neurol. 2010 Nov;43(5):316-9. doi:10.1016/j.pediatrneurol. 2010.06.001.
  4. Andreux PA, Houtkooper RH, Auwerx J. Pharmacologic approaches to restore mitochondrial function. Nat Rev Drug Discov 2013; 12:465-483
  5. Aurora SK, Dodick DW, Turkel CC, DeGryse RE, Silberstein SD, Lipton RB, Diener HC, Brin MF; PREEMPT 1 Chronic Migraine Study Group. OnabotulinumtoxinA for treatment of chronic migraine: results from the double-blind, randomized, placebo-controlled phase of the PREEMPT 1 trial. Cephalalgia. 2010 Jul;30(7):793-803. doi: 10.1177/0333102410364676. Epub 2010 Mar 17.
  6. Avery RA. Interpretation of lumbar puncture opening pressure measurements in children. J Neuroophthalmol. 2014 Sep;34(3):284-7. doi: 10.1097/WNO.0000000000000154. Review. Erratum in: J Neuroophthalmol. 2014 Dec;34(4):e17. PMID: 25133882
  7. Avery RA, Shah SS, Licht DJ, Seiden JA, Huh JW, Boswinkel J, Ruppe MD, Chew A, Mistry RD, Liu GT. Reference range for cerebrospinal fluid opening pressure in children. N Engl J Med. 2010 Aug 26;363(9):891-3. doi: 10.1056/NEJMc1004957. No abstract available. PMID: 20818852
  8. Azzopardi DV, Strohm B, Edwards AD, et al. Moderate hypothermia to treat perinatal asphyxial encephalopathy. N Engl J Med. 2009; 361:1349–1358. [PubMed: 19797281]
  9. Belfort MB, Ehrenkranz RA. Neurodevelopmental outcomes and nutritional strategies in very low birth weight infants. Semin Fetal Neonatal Med. 2017 Feb;22(1):42-48. doi: 10.1016/j.siny.2016.09.001. Review.
  10. Bender AC, Natola H, Ndong C, Holmes GL, Scott RC, Lenck-Santini P-P. Focal Scn1a knockdown induces cognitive impairment without seizures. Neurobiol Dis 2013; 54: 297–307.
  11. Bianchi S, Stimpson CD, Duka T, Larsen MD, Janssen WG, Collins Z, Bauernfeind AL, Schapiro SJ, Baze WB, McArthur MJ, Hopkins WD, Wildman DE, Lipovich L, Kuzawa CW, Jacobs B, Hof PR, Sherwood CC. Synaptogenesis and development of pyramidal neuron dendritic morphology in the chimpanzee neocortex resembles humans. Proc Natl Acad Sci U S A. 2013 Jun 18;110 Suppl 2:10395-401. doi: 10.1073/pnas.1301224110. Epub 2013 Jun 10. PMID: 23754422
  12. Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA. Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29. PMID: 25439493
  13. Brasil P, Pereira JP Jr, Moreira ME, Ribeiro Nogueira RM, Damasceno L, Wakimoto M, Rabello RS, Valderramos SG, Halai UA, Salles TS, Zin AA, Horovitz D, Daltro P, Boechat M, Raja Gabaglia C, Carvalho de Sequeira P, Pilotto JH, Medialdea-Carrera R, Cotrim da Cunha D, Abreu de Carvalho LM, Pone M, Machado Siqueira A, Calvet GA, Rodrigues Baião AE, Neves ES, Nassar de Carvalho PR, Hasue RH, Marschik PB, Einspieler C, Janzen C, Cherry JD, Bispo de Filippis AM, Nielsen-Saines K. Zika Virus Infection in Pregnant Women in Rio de Janeiro. N Engl J Med. 2016 Dec 15;375(24):2321-2334.
  14. Brenton JN, Banwell, BL. Therapeutic Approach to the Management of Pediatric Demyelinating Disease: Multiple Sclerosis and Acute Disseminated Encephalomyelitis. Neurotherapeutics. 2016 Jan; 13(1): 84–95.
  15. Brummelte S, Grunau RE, Chau V, Poskitt KJ, Brant R, Vinall J, Gover A, Synnes AR, Miller SP. Procedural pain and brain development in premature newborns. Ann Neurol. 2012 Mar;71(3):385-96. doi: 10.1002/ana.22267. PMID: 22374882
  16. Buompadre MC, Andres K, Slater LA, Mohseni-Bod H, Guerguerian AM, Branson H, Laughlin S, Armstrong D, Moharir M, deVeber G, Humpl T, Honjo O, Keshavjee S, Ichord R, Pereira V, Dlamini N. Thrombectomy for Acute Stroke in Childhood: A Case Report, Literature Review, and Recommendations. Pediatr Neurol. 2017 Jan;66:21-27. doi: 10.1016/j.pediatrneurol.2016.09.007.
  17. Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW, The Autism Sequencing Consortium. The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron 2012; 76, 1052–1056.
  19. Carvill GL, Regan BM, Yendle SC, et al. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 2013; 45: 1073–76.
  20. Casey BJ, Glatt CE, Lee FS. Treating the Developing versus Developed Brain: Translating Preclinical Mouse and Human Studies. Neuron. 2015 Jun 17;86(6):1358-68. doi: 10.1016/j.neuron.2015.05.020. Review. PMID:26087163
  21. Cavalheiro S, Moron AF, Zymberg ST, Dastoli P. Fetal hydrocephalus--prenatal treatment. Childs Nerv Syst. 2003 Aug;19(7-8):561-73.
  22. Chakraborti S, Natarajan K, Curiel J, Janke C, Liu J. The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease. Cytoskeleton (Hoboken). 2016 Oct;73(10):521-550. doi: 10.1002/cm.21290. Epub 2016 May 9.
  23. Chen LH, Hamer DH. Zika Virus: Rapid Spread in the Western Hemisphere. Ann Intern Med. 2016 May 3;164(9):613-5. doi: 10.7326/M16-0150. Epub 2016 Feb 2. PMID: 26832396
  24. Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nature Genet. 43: 1252-1255, 2011.
  25. Chinnery PF, Zeviani M. 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord. 2008 Mar;18(3):259-67.
  26. Chiriboga CA. Nusinersen for the treatment of spinal muscular atrophy. Expert Rev Neurother. 2017 Oct;17(10):955-962. doi: 10.1080/14737175.2017.1364159. Epub 2017 Sep 8. PMID: 28884620
  27. Ciechanski P, Kirton A. Transcranial Direct-Current Stimulation Can Enhance Motor Learning in Children. Cereb Cortex. 2017 May 1;27(5):2758-2767. doi: 10.1093/cercor/bhw114.
  28. Connolly B, MacBean V, Crowley C, Lunt A, Moxham J, Rafferty GF, Hart N. Ultrasound for the assessment of peripheral skeletal muscle architecture in critical illness: a systematic review. Crit Care Med. 2015 Apr;43(4):897-905. doi: 10.1097/CCM.0000000000000821.
  29. Co-Vu J, Lopez-Colon D, Vyas HV1, Weiner N, DeGroff C. Maternal hyperoxygenation: A potential therapy for congenital heart disease in the fetuses? A systematic review of the current literature. Echocardiography. 2017 Dec;34(12):1822-1833. doi: 10.1111/echo.13722.
  30. Cross-Disorder Group of the Psychiatric Genomics Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet. 2013 Apr 20;381(9875):1371-9. doi: 10.1016/S0140-6736(12)62129-1. Epub 2013 Feb 28. Erratum in: Lancet. 2013 Apr 20;381(9875):1360. PMID: 23453885
  31. Dadwal P, Mahmud N, Sinai L, Azimi A, Fatt M, Wondisford FE, Miller FD, Morshead CM. Activating Endogenous Neural Precursor Cells Using Metformin Leads to Neural Repair and Functional Recovery in a Model of Childhood Brain Injury. Stem Cell Reports. 2015 Aug 11;5(2):166-73. doi: 10.1016/j.stemcr.2015.06.011. Epub 2015 Jul 30.PMID: 26235894
  32. de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I, Berger R. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet. 2004 Dec 18-31;364(9452):2221-2.
  33. Di Fiore P, Bussone G, Galli A, Didier H, Peccarisi C, D'Amico D, Frediani F. Transcutaneous supraorbital neurostimulation for the prevention of chronic migraine: a prospective, open-label preliminary trial. Neurol Sci. 2017 May;38(Suppl 1):201-206. doi: 10.1007/s10072-017-2916-7.
  34. DiMauro S, Schon EA, Carelli V, Hirano M. The clinical maze of mitochondrial neurology. Nat Rev Neurol 2013; 9:429-444
  35. Dodick DW1, Turkel CC, DeGryse RE, Aurora SK, Silberstein SD, Lipton RB, Diener HC, Brin MF; PREEMPT Chronic Migraine Study Group. OnabotulinumtoxinA for treatment of chronic migraine: pooled results from the double-blind, randomized, placebo-controlled phases of the PREEMPT clinical program. Headache. 2010 Jun;50(6):921-36. doi: 10.1111/j.1526-4610.2010.01678.x. Epub 2010 May 7.
  36. Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb;139(Pt 2):317-37. doi: 10.1093/brain/awv371. Epub 2015 Dec 29. Review. PMID: 26715604
  37. Ebrahimi-Fakhari D, Wahlster L, Hoffmann GF, Kölker S. Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. Pediatr Res. 2014 Jan;75(1-2):217-26. doi: 10.1038/pr.2013.185. Epub 2013 Oct 28. Review. Erratum in: Pediatr Res. 2014 Sep;76(3):323. PMID: 24165736
  38. El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F. Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016 Apr;117(4):407-12. doi: 10.1016/j.ymgme. 2016.01.010. Epub 2016 Jan 27.PMID: 26851065
  39. Ellis M, Manandhar DS, Manandhar N, Wyatt J, Bolam AJ, Costello AM. Stillbirths and neonatal
  40. encephalopathy in Kathmandu, Nepal: an estimate of the contribution of birth asphyxia to perinatal
  41. mortality in a low-income urban population. Paediatr Perinat Epidemiol. 2000; 14:39–52. [PubMed:
  43. Fatt M, Hsu K, He L, Wondisford F, Miller FD, Kaplan DR, Wang J. Metformin Acts on Two Different Molecular Pathways to Enhance Adult Neural Precursor Proliferation/Self-Renewal and Differentiation. Stem Cell Reports. 2015 Dec 8;5(6):988-995. doi: 10.1016/j.stemcr.2015.10.014. Epub 2015 Nov 19. PMID: 26677765
  44. Ferriero DM. Neonatal brain injury. N Engl J Med. 2004; 351:1985–1995. [PubMed: 15525724]
  45. Friedman DI, Liu GT, Digre KB. Revised diagnostic criteria for the pseudotumor cerebri syndrome in adults and children. Neurology. 2013 Sep 24;81(13):1159-65. doi: 10.1212/WNL.0b013e3182a55f17. Epub 2013 Aug 21.PMID: 23966248
  46. Fullerton HJ, Hills NK, Elkind MS, Dowling MM, Wintermark M, Glaser CA, Tan M, Rivkin MJ, Titomanlio L, Barkovich AJ, deVeber GA; VIPS Investigators. Infection, vaccination, and childhood arterial ischemic stroke: Results of the VIPS study. Neurology. 2015 Oct 27;85(17):1459-66. doi: 10.1212/WNL. 0000000000002065. Epub 2015 Sep 30. PMID: 26423434
  47. Gogtay N, Giedd JN, Lusk L, Hayashi KM, Greenstein D, Vaituzis AC, Nugent TF 3rd, Herman DH, Clasen LS, Toga AW, Rapoport JL, Thompson PM. Dynamic mapping of human cortical development during childhood through early adulthood. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8174-9. Epub 2004 May 17. PMID: 15148381
  48. Gooriah R, Ahmed F. OnabotulinumtoxinA for chronic migraine: a critical appraisal. Ther Clin Risk Manag. 2015 Jun 29;11:1003-13. doi: 10.2147/TCRM.S76964. eCollection 2015. Review.
  49. Graus F, Titulaer MJ, Balu R, Benseler S, Bien CG, Cellucci T, Cortese I, Dale RC, Gelfand JM, Geschwind M, Glaser CA, Honnorat J, Höftberger R, Iizuka T, Irani SR, Lancaster E, Leypoldt F, Prüss H, Rae-Grant A, Reindl M, Rosenfeld MR, Rostásy K, Saiz A, Venkatesan A, Vincent A, Wandinger KP, Waters P, Dalmau J. A clinical approach to diagnosis of autoimmune encephalitis. Lancet Neurol. 2016 Apr;15(4):391-404. doi: 10.1016/S1474-4422(15)00401-9. Epub 2016 Feb 20. Review. PMID: 26906964
  50. Grinnon ST, Miller K, Marler JR, et al. National Institute of Neurological Disorders and Stroke Common
  51. Data Element Project – approach and methods. Clinical trials (London, England). 2012;9:322-329.
  52. Groen EJN, Talbot K, Gillingwater TH. Advances in therapy for spinal muscular atrophy: promises and challenges. Nat Rev Neurol. 2018 Feb 9. doi: 10.1038/nrneurol.2018.4. [Epub ahead of print] Review. PMID: 29422644
  53. Grose WE, Clark KR, Griffin D, Malik V, Shontz KM, Montgomery CL, Lewis S, Brown RH Jr, Janssen PM, Mendell JR, Rodino-Klapac LR. Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. PLoS One. 2012;7(6):e39233. doi: 10.1371/journal.pone. 0039233. Epub 2012 Jun 15. PMID: 22720081
  54. Gluckman PD, Wyatt JS, Azzopardi D, et al. Selective head cooling with mild systemic hypothermia
  55. after neonatal encephalopathy: multicentre randomised trial. Lancet. 2005; 365:663–670. [PubMed: 15721471]
  57. Guiraud S, Davies KE. Pharmacological advances for treatment in Duchenne muscular dystrophy. Curr Opin Pharmacol. 2017 Jun;34:36-48. doi: 10.1016/j.coph.2017.04.002. Epub 2017 May 6. Review. PMID: 28486179
  58. Hagberg H, Mallard C, Rousset CI, Xiaoyang W. Apoptotic mechanisms in the immature brain:
  59. involvement of mitochondria. J Child Neurol. 2009; 24:1141–1146. [PubMed: 19574577]
  60. Hartley CA, Lee FS. Sensitive periods in affective development: nonlinear maturation of fear learning. Neuropsychopharmacology. 2015 Jan;40(1):50-60. doi: 10.1038/npp.2014.179. Epub 2014 Jul 18.
  61. Hawkins PT, Stephens LR. PI3K signalling in inflammation. Biochim Biophys Acta. 2015 Jun;1851(6): 882-97. doi: 10.1016/j.bbalip.2014.12.006. Epub 2014 Dec 13. Review.
  62. Heier CR, Damsker JM, Yu Q, Dillingham BC, Huynh T, Van der Meulen JH, Sali A, Miller BK, Phadke A, Scheffer L, Quinn J, Tatem K, Jordan S, Dadgar S, Rodriguez OC, Albanese C, Calhoun M, Gordish-Dressman H, Jaiswal JK, Connor EM, McCall JM, Hoffman EP, Reeves EK, Nagaraju K. VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects. EMBO Mol Med. 2013 Oct;5(10):1569-85. doi: 10.1002/emmm.201302621. Epub 2013 Sep 9.PMID: 24014378
  63. Hendren RL, James SJ, Widjaja F, Lawton B, Rosenblatt A, Bent S. Randomized, Placebo-Controlled Trial of Methyl B12 for Children with Autism. J Child Adolesc Psychopharmacol. 2016 Nov;26(9):774-783. Epub 2016 Feb 18. PMID: 26889605
  64. Hills SL, Fischer M, Petersen LR. Epidemiology of Zika Virus Infection. J Infect Dis. 2017 Dec 16;216:S868-S874. doi: 10.1093/infdis/jix434. PMID: 29267914
  65. Hoffman EP, Reeves E, Damsker J, Nagaraju K, McCall JM, Connor EM, Bushby K. Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am. 2012 Nov;23(4):821-8. doi: 10.1016/j.pmr.2012.08.003. Review. PMID: 23137739
  66. Howell KB, McMahon JM, Carvill GL, et al. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology 2015; 85: 958–66.
  67. Hsiao EY, McBride SW, Hsien S, Sharon G, Hyde ER, McCue T, Codelli JA, Chow J, Reisman SE, Petrosino JF, Patterson PH, Mazmanian SK. Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders. Cell. 2013 Dec 19;155(7):1451-63. doi: 10.1016/j.cell.2013.11.024. Epub 2013 Dec 5. PMID: 24315484
  69. Hsu F, Mao Y. The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis. Biochim Biophys Acta. 2015 Jun;1851(6):698-710. doi: 10.1016/j.bbalip.2014.09.015. Epub 2014 Sep 28. Review. PMID: 25264170
  70. Huang X, Tian M, Hernandez CC, Hu N, Macdonald RL. The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. Neurobiol Dis 2012; 48: 115–23.
  71. Hussain S. Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders. Front Mol Neurosci 2014; 7: 6.
  72. Huttenlocher PR. Synaptic density in human frontal cortex - developmental changes and effects of aging. Brain Res. 1979 Mar 16;163(2):195-205.
  73. Jeong A, Wong M. mTOR Inhibitors in Children: Current Indications and Future Directions in Neurology. Curr Neurol Neurosci Rep. 2016 Dec;16(12):102. Review. PMID: 27815691
  74. Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013 Aug 8;93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. Epub 2013 Jul 11. PMID: 23849776
  76. Johnston MV. Excitotoxicity in perinatal brain injury. Brain Pathol. 2005; 15:234–240. [PubMed:
  78. Johnston MV, Fatemi A, Wilson MA, Northington F. Treatment advances in neonatal neuroprotection and neurointensive care. Lancet Neurol. 2011 Apr;10(4):372-82. doi: 10.1016/S1474-4422(11)70016-3. Review.PMID: 21435600
  79. Johnston MV, Hoon AH Jr. Cerebral palsy. Neuromolecular Med 2006;8(4):435–450. [PubMed:
  81. Johnston MV, Trescher WH, Ishida A, Nakajima W. Neurobiology of hypoxic-ischemic injury in the developing brain. Pediatric Res. 2001; 49:735–741.
  82. Jones W, Klin A. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature. 2013 Dec 19;504(7480):427-31. doi: 10.1038/nature12715. Epub 2013 Nov 6.
  83. Jongbloed BA, Haakma W, Goedee HS, Bos JW, Bos C, Hendrikse J, Van Den Berg LH, Van Der Pol WL. Comparative study of peripheral nerve Mri and ultrasound in multifocal motor neuropathy and amyotrophic lateral sclerosis. Muscle Nerve. 2016 Dec;54(6):1133-1135. doi: 10.1002/mus.25391. Epub 2016 Oct 1. PMID: 27571543
  84. Kalpathy-Cramer J, Chandra V, Da X, Ou Y, Emblem KE, Muzikansky A, Cai X, Douw L, Evans JG, Dietrich J, Chi AS, Wen PY, Stufflebeam S, Rosen B, Duda DG, Jain RK, Batchelor TT, Gerstner ER. Phase II study of tivozanib, an oral VEGFR inhibitor, in patients with recurrent glioblastoma. J Neurooncol. 2017 Feb;131(3):603-610. doi: 10.1007/s11060-016-2332-5. Epub 2016 Nov 16. PMID: 27853960
  85. Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. Erratum in: J Inherit Metab Dis. 2017 Oct 4;:PMID: 28303425
  86. Keeling KM1, Xue X, Gunn G, Bedwell DM. Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet. 2014;15:371-94. doi: 10.1146/annurev-genom-091212-153527. Epub 2014 Apr 18.
  87. Kessler RC, Berglund P, Demler O, Jin R, Merikangas KR, Walters EE. Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication. Arch Gen Psychiatry. 2005 Jun;62(6):593-602. Erratum in: Arch Gen Psychiatry. 2005 Jul;62(7):768. Merikangas, Kathleen R [added]. PMID:15939837
  88. Kessler RC, Wang PS. The descriptive epidemiology of commonly occurring mental disorders in the United States. Annual Review of Public Health. 2008; 29-115-129.
  89. Kindhauser MK, Allen T, Frank V, Santhana RS, Dye C. Zika: the origin and spread of a mosquito-borne virus. Bull World Health Organ. 2016 Sep 1;94(9):675-686C. Epub 2016 Feb 9.
  90. King IF, Yandava CN, Mabb AM, Hsiao JS, Huang HS, Pearson BL, Calabrese JM, Starmer J, Parker JS, Magnuson T, Chamberlain SJ, Philpot BD, Zylka MJ. Topoisomerases facilitate transcription of long genes linked to autism. Nature. 2013 Sep 5;501(7465):58-62. doi: 10.1038/nature12504. Epub 2013 Aug 28. PMID: 23995680
  92. Kirton A, Andersen J, Herrero M, Nettel-Aguirre A, Carsolio L, Damji O, Keess J, Mineyko A, Hodge J, Hill MD. Brain stimulation and constraint for perinatal stroke hemiparesis: The PLASTIC CHAMPS Trial. Neurology. 2016 May 3;86(18):1659-67. doi: 10.1212/WNL.0000000000002646. PMID: 27029628
  93. Kitamura K, Yanazawa M, Sugiyama N, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002; 32: 359–69.
  94. Koga Y, Akita Y, Nishioka J, Yatsuga S, Povalko N, Katayama K, Matsuishi T. MELAS and L-arginine therapy. Mitochondrion. 2007 Feb-Apr;7(1-2):133-9. Epub 2006 Dec 5. PMID: 17276739
  95. Kurinczuk JJ, White-Koning M, Badawi N. Epidemiology of neonatal encephalopathy and hypoxic-ischaemic encephalopathy. Early Hum Dev. 2010; 86:329–338. [PubMed: 20554402]
  96. Lagman C, Chung LK, Pelargos PE, Ung N, Bui TT, Lee SJ, Voth BL, Yang I. Laser neurosurgery: A systematic analysis of magnetic resonance-guided laser interstitial thermal therapies. J Clin Neurosci. 2017 Feb;36:20-26. doi: 10.1016/j.jocn.2016.10.019. Epub 2016 Nov 9. Review. PMID: 27838155
  97. Leypoldt F, Armangue T, Dalmau J. Autoimmune encephalopathies. Ann N Y Acad Sci 2015; 1338: 94–114.
  98. Lesca G, Rudolf G, Bruneau N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet 2013; 45: 1061–66.
  99. Liu HS, Chu PL. Three-parent embryo: The therapeutic future for inherited mitochondrial diseases. J Formos Med Assoc. 2015 Nov;114(11):1027-8. doi: 10.1016/j.jfma.2014.04.007. Epub 2014 Jun 17. No abstract available. PMID: 24951160
  100. Lohmann, K., Wilcox, R. A., Winkler, S., Ramirez, A., Rakovic, A., Park, J.-S., Arns, B., Lohnau, T., Groen, J., Kasten, M., Bruggemann, N., Hagenah, J., and 17 others. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann. Neurol 2013; 73: 537-545.
  101. Magis D, Sava S, d'Elia TS, Baschi R, Schoenen J. Safety and patients' satisfaction of transcutaneous supraorbital neurostimulation (tSNS) with the Cefaly® device in headache treatment: a survey of 2,313 headache sufferers in the general population. J Headache Pain. 2013 Dec 1;14:95. doi: 10.1186/1129-2377-14-95.
  102. Makhluf H, Shresta S. Development of Zika Virus Vaccines. Vaccines (Basel). 2018 Jan 18;6(1). pii: E7. doi: 10.3390/vaccines6010007.
  103. Malhotra, D., and Sebat, J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 2012; 148, 1223–1241.
  104. Martinelli D1, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, Pontrelli G, Corsetti T, Livadiotti S, Kheifets V, Hinman A, Shrader WD, Thoolen M, Klein MB, Bertini E, Miller G. EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. Mol Genet Metab. 2012 Nov;107(3):383-8. doi: 10.1016/j.ymgme.2012.09.007. Epub 2012 Sep 10.
  105. Matsa E, Dixon JE, Medway C, et al. Allele-specifi c RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes. Eur Heart J 2014; 35: 1078–87.
  106. Matsumura T, Tamura T, Kuru S, Kikuchi Y, Kawai M. Carvedilol can prevent cardiac events in Duchenne muscular dystrophy. Intern Med. 2010;49(14):1357-63. Epub 2010 Jul 15. PMID: 20647648
  107. Mattei JP, Bendahan D, Cozzone P. P-31 magnetic resonance spectroscopy. A tool for diagnostic purposes and pathophysiological insights in muscle diseases. Reumatismo. 2004; 56:9–14.
  108. PMID:15201936
  109. McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016 Mar;15(3):304-16. doi: 10.1016/S1474-4422(15)00250-1. Epub 2015 Nov 17. Review
  110. Mécharles S1, Herrmann C2, Poullain P3, Tran TH1, Deschamps N1, Mathon G3, Landais A1, Breurec S4, Lannuzel A5. Acute myelitis due to Zika virus infection. Lancet. 2016 Apr 2;387(10026):1481. doi: 10.1016/S0140-6736(16)00644-9. Epub 2016 Mar 4.
  111. Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251.
  112. Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 79: 170-174, 2012.
  113. Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504. PMID: 29443664
  114. Messina S, Pane M, Sansone V, Bruno C, Catteruccia M, Vita G, Palermo C, Albamonte E, Pedemonte M, Bertini E, Binetti L, Mercuri E; Italian EAP working Group. Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience. Neuromuscul Disord. 2017 Dec;27(12):1084-1086. doi: 10.1016/j.nmd.2017.09.006. Epub 2017 Sep 21. No abstract available. PMID: 29132728
  115. Millichap JG1. Zika Virus Infection and Microcephaly. Pediatr Neurol Briefs. 2016 Jan;30(1):8. Doi:
  116. 15844/pedneurbriefs-30-1-7.
  117. Milligan CJ1, Li M, Gazina EV, Heron SE, Nair U, Trager C, Reid CA, Venkat A, Younkin DP, Dlugos DJ, Petrovski S, Goldstein DB, Dibbens LM, Scheffer IE, Berkovic SF, Petrou S. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol. 2014 Apr;75(4):581-90. doi: 10.1002/ana.24128. Epub 2014 Apr 14.
  118. Mishra MK, Loro E, Sengupta K, Wilton SD, Khurana TS. Functional improvement of dystrophic muscle by repression of utrophin: let-7c interaction. PLoS One. 2017 Oct 18;12(10):e0182676. doi: 10.1371/journal.pone.0182676. eCollection 2017. PMID: 29045431
  119. Mlakar J, Korva M, Tul N, Popović M, Poljšak-Prijatelj M, Mraz J, Kolenc M, Resman Rus K, Vesnaver Vipotnik T, Fabjan Vodušek V, Vizjak A, Pižem J, Petrovec M, Avšič Županc T. Zika Virus Associated with Microcephaly. N Engl J Med. 2016 Mar 10;374(10):951-8. doi: 10.1056/NEJMoa1600651. Epub 2016 Feb 10. PMID: 26862926
  120. Moavero R, Carai A, Mastronuzzi A, Marciano S, Graziola F, Vigevano F, Curatolo P. Everolimus Alleviates Obstructive Hydrocephalus due to Subependymal Giant Cell Astrocytomas. Pediatr Neurol. 2017 Mar;68:59-63. doi: 10.1016/j.pediatrneurol.2016.11.003. Epub 2017 Jan 3. PMID: 28162859
  121. Modjarrad K, Lin L, George SL, Stephenson KE, Eckels KH, De La Barrera RA, Jarman RG, Sondergaard E, Tennant J, Ansel JL, Mills K, Koren M, Robb ML, Barrett J, Thompson J, Kosel AE, Dawson P, Hale A, Tan CS, Walsh SR, Meyer KE, Brien J, Crowell TA, Blazevic A, Mosby K, Larocca RA, Abbink P, Boyd M, Bricault CA, Seaman MS, Basil A, Walsh M, Tonwe V, Hoft DF, Thomas SJ, Barouch DH, Michael NL. Preliminary aggregate safety and immunogenicity results from three trials of a purified inactivated Zika virus vaccine candidate: phase 1, randomised, double-blind, placebo-controlled clinical trials. Lancet. 2017 Dec 4. pii: S0140-6736(17)33106-9. doi: 10.1016/S0140-6736(17)33106-9. [Epub ahead of print] PMID: 29217375
  122. Morales MG, Gutierrez J, Cabello-Verrugio C, Cabrera D, Lipson KE, Goldschmeding R, Brandan E. Reducing CTGF/CCN2 slows down mdx muscle dystrophy and improves cell therapy. Hum Mol Genet. 2013 Dec 15;22(24):4938-51. doi: 10.1093/hmg/ddt352. Epub 2013 Jul 30. PMID: 23904456
  123. Morrison JH, Hof PR. Life and death of neurons in the aging brain. Science. 1997 Oct 17;278(5337): 412-9. Review.
  124. Murphy JL1, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, Taylor RW, Turnbull DM, Taivassalo T.
  125. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain. 2008 Nov;131(Pt 11):2832-40. doi: 10.1093/brain/awn252.
  126. Musso D, Gubler DJ. Zika Virus. Clin Microbiol Rev. 2016 Jul;29(3):487-524. doi: 10.1128/CMR.00072-15. Review. PMID: 27029595
  127. Nance E, Porambo M, Zhang F, Mishra MK, Buelow M, Getzenberg R, Johnston M, Kannan RM, Fatemi A, Kannan S. Systemic dendrimer-drug treatment of ischemia-induced neonatal white matter injury. J Control Release. 2015 Sep 28;214:112-20. doi: 10.1016/j.jconrel.2015.07.009.
  128. Ng J, Papandreou A, Heales SJ, Kurian MA. Monoamine neurotransmitter disorders--clinical advances and future perspectives. Nat Rev Neurol. 2015 Oct;11(10):567-84. doi: 10.1038/nrneurol.2015.172. Epub 2015 Sep 22.
  129. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001; 11:863-74.
  130. Noebels J. Pathway-driven discovery of epilepsy genes. Nat Neurosci 2015; 18: 344–50.
  131. Northcott PA, Buchhalter I, Morrissy AS, Hovestadt V, Weischenfeldt J, Ehrenberger T, Gröbner S, Segura-Wang M, Zichner T, Rudneva VA, Warnatz HJ, Sidiropoulos N, Phillips AH, Schumacher S, Kleinheinz K, Waszak SM, Erkek S, Jones DTW, Worst BC, Kool M, Zapatka M, Jäger N, Chavez L, Hutter B, Bieg M, Paramasivam N, Heinold M, Gu Z, Ishaque N, Jäger-Schmidt C, Imbusch CD, Jugold A, Hübschmann D, Risch T, Amstislavskiy V, Gonzalez FGR, Weber UD, Wolf S, Robinson GW, Zhou X, Wu G, Finkelstein D, Liu Y, Cavalli FMG, Luu B, Ramaswamy V, Wu X, Koster J, Ryzhova M, Cho YJ, Pomeroy SL, Herold-Mende C, Schuhmann M, Ebinger M, Liau LM, Mora J, McLendon RE, Jabado N, Kumabe T, Chuah E, Ma Y, Moore RA, Mungall AJ, Mungall KL, Thiessen N, Tse K, Wong T, Jones SJM, Witt O, Milde T, Von Deimling A, Capper D, Korshunov A, Yaspo ML, Kriwacki R, Gajjar A, Zhang J, Beroukhim R, Fraenkel E, Korbel JO, Brors B, Schlesner M, Eils R, Marra MA, Pfister SM, Taylor MD, Lichter P.
  132. The whole-genome landscape of medulloblastoma subtypes. Nature. 2017 Jul 19;547(7663):311-317. doi: 10.1038/nature22973. PMID: 28726821
  134. Ohtahara S. A study on the age dependent epileptic encephalopathy. No To Hattatsu 1977; 9: 2–21.
  135. Oliver KL, Lukic V, Thorne NP, Berkovic SF, Scheff er IE, Bahlo M. Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. PLoS One 2014; 9: e102079.
  136. Orhan G, Bock M, Schepers D, et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 2014; 75: 382–94.
  137. Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A, The Italian IBAHC Consortium, The French AHC Consortium, The International AHC Consortium. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.PMID: 26410222
  138. Park HR, Lee JM, Moon HE, Lee DS, Kim BN, Kim J, Kim DG, Paek SH. A Short Review on the Current Understanding of Autism Spectrum Disorders. Exp Neurobiol. 2016 Feb;25(1):1-13. doi: 10.5607/en.2016.25.1.1. Epub 2016 Jan 28. Review. PMID:26924928
  140. Pastore A, Petrillo S, Tozzi G, Carrozzo R, Martinelli D, Dionisi-Vici C, Di Giovamberardino G, Ceravolo F, Klein MB, Miller G, Enns GM, Bertini E, Piemonte F. Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies. Mol Genet Metab. 2013 Jun;109(2):208-14. doi: 10.1016/j.ymgme.2013.03.011. Epub 2013 Mar 24. PMID: 23583222
  141. Paton DM. Nusinersen: antisense oligonucleotide to increase SMN protein production in spinal muscular atrophy. Drugs Today (Barc). 2017 Jun;53(6):327-337. doi: 10.1358/dot.2017.53.6.2652413. Review. PMID: 28799578
  142. Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet. 2017 Oct 25. pii: S1769-7212(17)30494-9. doi: 10.1016/j.ejmg.2017.10.012. [Epub ahead of print] Review. PMID: 29079546
  143. Pelletier D, Hafler DA. Fingolimod for multiple sclerosis. N Engl J Med. 2012;366:339–347. doi: 10.1056/NEJMct1101691.
  144. Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012; 4:CD004426. Doi: 10.1002/14651858.CD004426.pub3.
  145. Phillips AW, Johnston MV, Fatemi A. The potential for cell-based therapy in perinatal brain injuries.
  146. Transl Stroke Res. 2013 Apr;4(2):137-48. doi: 10.1007/s12975-013-0254-5. Review. PMID: 23814628
  147. Pierson TM, Yuan H, Marsh ED, et al, and the PhD for the NISC Comparative Sequencing Program. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol 2014; 1: 190–98.
  148. Porayette P, Madathil S, Sun L, Jaeggi E, Grosse-Wortmann L, Yoo SJ, Hickey E, Miller SP, Macgowan CK, Seed M. MRI reveals hemodynamic changes with acute maternal hyperoxygenation in human fetuses with and without congenital heart disease. Prenat Diagn. 2016 Mar;36(3):274-81. doi: 10.1002/pd.4762.
  149. Powers SW, Kashikar-Zuck SM, Allen JR, LeCates SL, Slater SK, Zafar M, Kabbouche MA, O'Brien HL,
  150. Shenk CE, Rausch JR, Hershey AD. Cognitive behavioral therapy plus amitriptyline for chronic migraine in children and adolescents: a randomized clinical trial. JAMA. 2013 Dec 25;310(24):2622-30. doi: 10.1001/jama.2013.282533.
  151. Raeker MÖ, Shavit JA, Dowling JJ, Michele DE, Russell MW. Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish. Front Physiol. 2014 Jan 28;5:14. doi: 10.3389/fphys.2014.00014. eCollection 2014. PMID: 24478725
  152. Rasmussen SA, Jamieson DJ, Honein MA, Petersen LR. Zika Virus and Birth Defects--Reviewing the Evidence for Causality. N Engl J Med. 2016 May 19;374(20):1981-7. doi: 10.1056/NEJMsr1604338. Epub 2016 Apr 13. No abstract available. PMID: 27074377
  153. Reinhardt P, Schmid B, Burbulla LF, Schöndorf DC, Wagner L, Glatza M, Höing S, Hargus G, Heck SA, Dhingra A, Wu G, Müller S, Brockmann K, Kluba T, Maisel M, Krüger R, Berg D, Tsytsyura Y, Thiel CS, Psathaki OE, Klingauf J, Kuhlmann T, Klewin M, Müller H, Gasser T, Schöler HR, Sterneckert J. Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression. Cell Stem Cell. 2013 Mar 7;12(3):354-67. doi: 10.1016/j.stem.2013.01.008
  154. Riederer F, Penning S, Schoenen J. Transcutaneous Supraorbital Nerve Stimulation (t-SNS) with the Cefaly® Device for Migraine Prevention: A Review of the Available Data. Pain Ther. 2015 Oct 14. [Epub ahead of print] PMID: 26467451
  155. Rodan LH, Poublanc J, Fisher JA, Sobczyk O, Wong T, Hlasny E, Mikulis D, Tein I. Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 2015 May;22:66-74. doi: 10.1016/j.mito.2015.03.002. Epub 2015 Mar 21.PMID: 25801712
  156. Rodan LH, Wells GD, Banks L, Thompson S, Schneiderman JE, Tein I. L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. PLoS One. 2015 May 20;10(5):e0127066. doi: 10.1371/journal.pone.0127066. eCollection 2015.PMID: 25993630
  157. San Sebastian, W., Kells, A. P., Bringas, J., Samaranch, L., Hadaczek, P., Ciesielska, A. and Bankiewicz, K. S. Safety and tolerability of MRI-guided infusion of AAV2-hAADC into the mid-brain of non-human primate. Molecular Therapy – Methods & Clinical Development. 2014; 3, 14049.
  158. Schoenen J, Vandersmissen B, Jeangette S, Herroelen L, Vandenheede M, Gérard P, Magis D. Migraine prevention with a supraorbital transcutaneous stimulator: a randomized controlled trial. Neurology. 2013 Feb 19;80(8):697-704. doi: 10.1212/WNL.0b013e3182825055. Epub 2013 Feb 6.
  159. Schroeder AS, Von Kries R, Riedel C, Homburg M, Auffermann H, Blaschek A, Jahn K, Heinen F, Borggraefe I, Berweck. Patient-specific determinants of responsiveness to robot-enhanced treadmill therapy in children and adolescents with cerebral palsy. Dev Med Child Neurol. 2014 Dec;56(12):1172-1179. doi: 10.1111/dmcn.12564. Epub 2014 Aug 25. PMID: 25154424
  160. Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, and 25 others. PRRT2 mutations are the major cause of benign familial infantile seizures. Hum. Mutat. 33: 1439-1443, 2012.
  161. Shankaran S, Laptook AR, Ehrenkranz RA, et al. Whole-body hypothermia for neonates with
  162. hypoxic-ischemic encephalopathy. N Engl J Med. 2005; 353:1574–1584. [PubMed: 16221780]
  163. Sheldon CA, Paley GL, Xiao R, Kesler A, Eyal O, Ko MW, Boisvert CJ, Avery RA, Salpietro V, Phillips PH, Heidary G, McCormack SE, Liu GT. Pediatric Idiopathic Intracranial Hypertension: Age, Gender, and Anthropometric Features at Diagnosis in a Large, Retrospective, Multisite Cohort. Ophthalmology. 2016 Nov;123(11):2424-2431. doi: 10.1016/j.ophtha.2016.08.004. Epub 2016 Sep 28.
  164. Shoji T, Saito R, Chonan M, Shibahara I, Sato A, Kanamori M, Sonoda Y, Kondo T, Ishii N, Tominaga T. Local convection-enhanced delivery of an anti-CD40 agonistic monoclonal antibody induces antitumor effects in mouse glioma models. Neuro Oncol. 2016 Aug;18(8):1120-8. doi: 10.1093/neuonc/now023. Epub 2016 Feb 24. PMID: 26917236
  165. Siddiq I, Widjaja E, Tein I. Clinical and radiologic reversal of stroke-like episodes in MELAS with high-dose L-arginine. Neurology. 2015 Jul 14;85(2):197-8. doi: 10.1212/WNL.0000000000001726. Epub 2015 Jun 12.
  166. Silberstein SD, Dodick DW, Bigal ME, Yeung PP, Goadsby PJ, Blankenbiller T, Grozinski-Wolff M, Yang R, Ma Y, Aycardi E. Fremanezumab for the Preventive Treatment of Chronic Migraine. N Engl J Med. 2017 Nov 30;377(22):2113-2122. doi: 10.1056/NEJMoa1709038.
  167. Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, and 9 others. A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am. J. Hum Genet 2013; 92: 767-773.
  168. Siva K1, Covello G, Denti MA. Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases. Nucleic Acid Ther. 2014 Feb;24(1):69-86. doi: 10.1089/nat.2013.0461.
  169. Smith DW, Mackenzie J. Zika virus and Guillain-Barré syndrome: another viral cause to add to the list. Lancet. 2016 Apr 9;387(10027):1486-8. doi: 10.1016/S0140-6736(16)00564-X. Epub 2016 Mar 2. No abstract available.
  170. Southwell AL1, Skotte NH, Bennett CF, Hayden MR. Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases. Trends Mol Med. 2012 Nov;18(11):634-43. doi: 10.1016/j.molmed.2012.09.001.
  171. Stocco A, Baizabal-Carvallo JF. Deep brain stimulation for severe secondary stereotypies. Parkinsonism
  172. Relat Disord. 2014;20:1035–1036.
  173. Sturm V, Fricke O, Bührle CP, Lenartz D, Maarouf M, Treuer H, Mai JK, Lehmkuhl G. DBS in the
  174. basolateral amygdala improves symptoms of autism and related self-injurious behavior: a case report and hypothesis on the pathogenesis of the disorder. Front Hum Neurosci. 2012;6:341.
  175. Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A. ATP1A3 mutation in adult rapid-onset ataxia. PLoS One 2016; 11: e0151429.
  176. Taivassalo T, Fu K, Johns T, Arnold D, Karpati G, Shoubridge EA. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet. 1999 Jun;8(6):1047-52. PMID: 10332036
  177. Talero-Gutiérrez C, Rivera-Molina A, Pérez-Pavajeau C, Ossa-Ospina I, Santos-García C, Rojas-Anaya MC, de-la-Torre A. Zika virus epidemiology: from Uganda to world pandemic, an update. Epidemiol Infect. 2018:1-7. doi: 10.1017/S0950268818000419. PMID: 29536828
  178. Tan WK, Williams CE, During MJ, et al. Accumulation of cytotoxins during the development of
  179. seizures and edema after hypoxic-ischemic injury in late gestation fetal sheep. Pediatr Res. 1996;
  180. :791–797. [PubMed: 8726230]
  181. Tang H, Hammack C, Ogden SC, Wen Z, Qian X, Li Y, Yao B, Shin J, Zhang F, Lee EM, Christian KM, Didier RA, Jin P, Song H, Ming GL. Zika Virus Infects Human Cortical Neural Progenitors and Attenuates Their Growth. Cell Stem Cell. 2016 May 5;18(5):587-90. doi: 10.1016/j.stem.2016.02.016.
  182. Taylor LE, Swerdfeger AL, Eslick GD. Vaccines are not associated with autism: an evidence-based meta-analysis of case-control and cohort studies. Vaccine. 2014 Jun 17;32(29):3623-9. doi: 10.1016/j.vaccine.2014.04.085. Epub 2014 May 9.PMID: 24814559
  183. Tarnopolsky MA1. Exercise as a therapeutic strategy for primary mitochondrial cytopathies. J Child Neurol. 2014 Sep;29(9):1225-34. doi: 10.1177/0883073814538512. Epub 2014 Jul 9.
  184. Tavare A. Scientists are to investigate "three parent IVF" for preventing mitochondrial diseases. BMJ. 2012 Jan 20;344:e540. doi: 10.1136/bmj.e540. No abstract available. PMID: 22267657
  185. Tein I. Mitochondrial diseases: need for international collaborations. Dev Med Child Neurol. 2016 May;58(5):425. doi: 10.1111/dmcn.13120. No abstract available. PMID: 27103187
  186. Termsarasab P, Yang AC, Frucht SJ. Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations. Tremor Other Hyperkinet Mov (N Y). 2015 Sep 16;5:336. doi: 10.7916/D8MG7NS8. eCollection 2015.PMID: 26417536
  187. Thomas RH, Zhang LM, Carvill GL, et al, and the Euro EPINOMICS RES Consortium. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology 2015; 84: 951–58.
  188. Thoresen M. Cooling the newborn after asphyxia—physiological and experimental background
  189. and its clinical use. Semin Neonatol. 2000; 5:61–73. [PubMed: 10802751]
  190. van Roon-Mom WM1, Aartsma-Rus A. Overview on applications of antisense-mediated exon skipping. Methods Mol Biol. 2012;867:79-96. doi: 10.1007/978-1-61779-767-5_6.
  191. Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab. 2000 Sep-Oct;71(1-2):10-8. Review.
  192. Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San-A, Li N, Chen SQ, Guo JF, Jiang H, and 12 others. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 134: 3493-3501, 2011.
  193. Wang J, Gallagher D, DeVito LM, Cancino GI, Tsui D, He L, Keller GM, Frankland PW, Kaplan DR, Miller FD. Metformin activates an atypical PKC-CBP pathway to promote neurogenesis and enhance spatial memory formation. Cell Stem Cell. 2012 Jul 6;11(1):23-35. doi: 10.1016/j.stem.2012.03.016. PMID: 22770240
  194. Wang X, Stridh L, Li W, et al. Lipopolysaccharide sensitizes neonatal hypoxic-ischemic brain injury in a MyD88-dependent manner. J Immunol. 2009; 183:7471–7477. [PubMed: 19917690]
  195. Wang X, Svedin P, Nie C, et al. N-acetylcysteine reduces lipopolysaccharide-sensitized hypoxic-ischemic brain injury. Ann Neurol. 2007; 61:263–271. [PubMed: 17253623]
  196. Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012; 71: 15–25.
  197. Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 2013 Nov 21;155(5):997-1007. doi: 10.1016/j.cell.2013.10.020.PMID: 24267886
  199. Wishart DS, Feunang YD, Marcu A, Guo AC, Liang K, Vázquez-Fresno R, Sajed T, Johnson D, Li C, Karu N, Sayeeda Z, Lo E, Assempour N, Berjanskii M, Singhal S, Arndt D, Liang Y, Badran H, Grant J, Serra-Cayuela A, Liu Y, Mandal R, Neveu V, Pon A, Knox C, Wilson M, Manach C, Scalbert A. HMDB 4.0: the human metabolome database for 2018. Nucleic Acids Res. 2018 Jan 4;46(D1):D608-D617. doi: 10.1093/nar/gkx1089.
  200. Yu FH, Mantegazza M, Westenbroek RE, et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 2006; 9: 1142–49.
  201. Yuan H, Lauritsen CG, Kaiser EA, Silberstein SD. CGRP Monoclonal Antibodies for Migraine: Rationale and Progress. BioDrugs. 2017 Dec;31(6):487-501. doi: 10.1007/s40259-017-0250-5. PMID: 29116598
  202. Zhu S, Marmura MJ. Non-Invasive Neuromodulation for Headache Disorders. Curr Neurol Neurosci Rep. 2016 Feb;16(2):11. doi: 10.1007/s11910-015-0620-7. Review. PMID: 26750126
  203. Zolkipli Z, Pedersen CB, Lamhonwah AM, Gregersen N, Tein I. Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. PLoS One. 2011 Apr 1;6(4):e17534. doi: 10.1371/journal.pone.0017534.

Most read articles by the same author(s)