ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus

Neurology

Volumn 80, Issue 17, 2013, Pages 1571-1576

  Shinohara, Mayu ^a   Saitoh, Makiko ^a   Nishizawa, Daisuke ^b,c   Ikeda, Kazutaka ^b,c   Hirose, Shinichi ^d   Takanashi, Jun Ichi ^e   Takita, Junko ^a   Kikuchi, Kenjiro ^f   Kubota, Masaya ^g   Yamanaka, Gaku ^h   Shiihara, Takashi ⁱ   Kumakura, Akira ^j   Kikuchi, Masahiro ^k   Toyoshima, Mitsuo ^l   Goto, Tomohide ^m   Yamanouchi, Hideo ⁿ   Mizuguchi, Masashi ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^d FUKUOKA UNIVERSITY   (Japan)

^e KAMEDA MEDICAL CENTER   (Japan)

^f Department of Pediatrics   (Japan)

^g NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^h TOKYO MEDICAL UNIVERSITY   (Japan)

ⁱ Gumna Children S Medical Center   (Japan)

^j Kitano Hospital   (Japan)

^k Hitachi   (Japan)

^l KAGOSHIMA UNIVERSITY   (Japan)

^m TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

ⁿ SAITAMA MEDICAL UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE A2A RECEPTOR; CYCLIC AMP;

ADULT; AGED; ARTICLE; BRAIN DISEASE; CONTROLLED STUDY; DISEASE PREDISPOSITION; EPILEPTIC STATE; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HAPLOTYPE MAP; HUMAN; LYMPHOBLAST; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; CHILD; FEBRILE CONVULSION; GENETIC PREDISPOSITION; GENETICS; INFANT; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, ADENOSINE A2A; SEIZURES, FEBRILE; STATUS EPILEPTICUS;

MLCS; MLOWN;

EID: 84878951820     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31828f18d8     Document Type: Article

References (27)

1. Nabbout R, Vezzani A, Dulac O, Chiron C. Acute encephalopathy with inflammation-mediated status epilepticus. Lancet Neurol 2011;10:99-108.
2. Takanashi J, Oba H, Barkovich AJ, et al. Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy. Neurology 2006;66:1304-1309.
3. Hoshino A, Saitoh M, Oka A, et al. Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes. Brain Dev 2012;34:337-343.
4. Mizuguchi M, Yannanouchi H, Ichiyama T, Shiomi M. Acute encephalopathy associated with influenza and other viral infections. Acta Neurol Scand 2007;115:45-56.
5. Takanashi J, Tada H, Terada H, Barkovich AJ. Excitotoxicity in acute encephalopathy with biphasic seizures and late reduced diffusion. AJNR Am J Neuroradiol 2009;30:132-135.
6. Takanashi J. Two newly proposed infectious encephalitis/encephalopathy syndromes. Brain Dev 2009;31:521-528.
7. Shinohara M, Saitoh M, Takanashi J, et al. Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. Brain Dev 2011;33:512-517.
8. Yu LQ, Frith MC, Suzuki Y, et al. Characterization of genomic organization of the adenosine A2A receptor gene by molecular and bioinformatics analyses. Brain Res 2004;1000:156-173.
9. Olah ME, Stiles GL. Adenosine receptor subtypes: characterization and therapeutic regulation. Annu Rev Pharmacol Toxicol 1995;35:581-606.
10. Huang S, Apasov S, Koshiba M, Sitkovsky M. Role of A2a extracellular adenosine receptor-mediated signaling in adenosine-mediated inhibition of T-cell activation and expansion. Blood 1997;90:1600-1610.
11. Fredholm BB, Chen JF, Cunha RA, Svenningsson P. Vaugeois JM. Adenosine and brain function. Int Rev Neurobiol 2005;63:191-270.
12. Dragunow M. Adenosine: the brain's natural anticonvulsant. Trends Pharmacol Sci 1986;7:128-130.
13. Avsar E, Empson RM. Adenosine acting via A1 receptors, controls the transition to status epilepticus-like behaviour in an in vitro model of epilepsy. Neuropharmacology 2004;47:427-437.
14. Zeraati M, Mirnajafi-Zadeh J, Fathollahi Y, Namvar S, Rezvani ME. Adenosine A1 and A2A receptors of hippocampal CA1 region have opposite effects on piriform cortex kindled seizures in rats. Seizure 2006;15:41-48.
15. El Yacoubi M, Ledent C, Parmentier M, et al. Absence of the adenosine A2A receptor or its chronic blockade decrease ethanol withdrawal-induced seizures in mice. Neuropharmacology 2001;40:424-32.
16. Fukuda M, Suzuki Y, Hino H, Morimoto T, Ishii E. Activation of central adenosine A2A receptors lowers the seizure threshold of hyperthermia-induced seizure in childhood rats. Seizure 2011;20:156-159.
17. Rogers PJ, Hohoff C, Heatherley SV, et al. Association of the anxiogenic and alerting effects of caffeine with ADORA2A and ADORA1 polymorphisms and habitual level of caffeine consumption. Neuropsychopharmacology 2010;35:1973-1983.
18. Childs E, Hohoff C, Deckert J, Xu K, Badner J, De Wit H. Association between ADORA2A and DRD2 polymorphisms and caffeine-induced anxiety. Neuropsychopharmacology 2008;33:2791-2800.
19. Alsene K, Deckert J, Sand P, De Wit H. Association between A2a receptor gene polymorphisms and caffeine-induced anxiety. Neuropsychopharmacology 2003;28:1694-1702.
20. King DC, Taylor J, Elnitski L, Chiaromonte F, Miller W, Hardison RC. Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences. Genome Res 2005;15:1051-1060.
21. Conde L, Vaquerizas JM, Dopazo H, et al. PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res 2006;34:W621-W625.
22. Higley MJ, Sabatini BL. Competitive regulation of synaptic Ca2 + influx by D2 dopamine and A2A adenosine receptors. Nat Neurosci 2010;13:958-977.
23. Skeberdis VA, Chevaleyre V, Lau CG, et al. Protein kinase A regulates calcium permeability of NMDA receptors. Nat Neurosci 2006;9:501-510.
24. Cunha RA. Adenosine as a neuromodulator and as a homeostatic regulator in the nervous system: different roles, different sources and different receptors. Neurochem Int 2001;38:107-125.
25. Fredholm BB, Chern Y, Franco R, Sitkovsky M. Aspects of the general biology of adenosine A2A signaling. Prog Neurobiol 2007;83:263-276.
26. O'Regan MH, Simpson RE, Perkins LM, Phillis JW. The selective adenosine A2 receptor agonist CGS 21680 enhances excitatory transmitter amino acid release from the ischemic rat cerebral cortex. Neurosci Lett 1992;138:169-172.
27. Jones PA, Smith RA, Stone TW. Protection against hippocampal kainate excitotoxicity by intracerebral administration of an adenosine A2A receptor antagonist. Brain Res 1998;800:328-335. Science Science