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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Encephalocele


High impact information on Encephalocele


Chemical compound and disease context of Encephalocele


Anatomical context of Encephalocele

  • Optic nerve colobomas can occur as sporadic abnormalities, may be inherited as an autosomal dominant defect, occur as part of syndromes, and are rarely associated with cardiac malformations and midline encephaloceles [16].
  • The authors describe the association between an antero-basal temporal lobe encephalocele and medically intractable temporal lobe epilepsy in three patients treated successfully by surgery [17].
  • The encephalocele demonstrated irregular peripheral enhancement along the margin--a very uncommon finding--as well as contrast enhancement of the basal meninges, which can be seen occasionally with Wegener granulomatosis [9].
  • Treatment was also associated with gross and skeletal malformations, such as median facial cleft, exencephaly, encephalocele, fused ribs, and anomalous vertebrae and exoccipitals [18].
  • A disturbance in the separation of the neural and surface ectoderm may be the pathogenetic basis of midline skull defects, and of the fronto-ethmoidal encephalocele in particular [19].

Gene context of Encephalocele


Analytical, diagnostic and therapeutic context of Encephalocele


  1. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Karmous-Benailly, H., Martinovic, J., Gubler, M.C., Sirot, Y., Clech, L., Ozilou, C., Auge, J., Brahimi, N., Etchevers, H., Detrait, E., Esculpavit, C., Audollent, S., Goudefroye, G., Gonzales, M., Tantau, J., Loget, P., Joubert, M., Gaillard, D., Jeanne-Pasquier, C., Delezoide, A.L., Peter, M.O., Plessis, G., Simon-Bouy, B., Dollfus, H., Le Merrer, M., Munnich, A., Encha-Razavi, F., Vekemans, M., Attié-Bitach, T. Am. J. Hum. Genet. (2005) [Pubmed]
  2. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Sertié, A.L., Sossi, V., Camargo, A.A., Zatz, M., Brahe, C., Passos-Bueno, M.R. Hum. Mol. Genet. (2000) [Pubmed]
  3. CSF polyamines in childhood. Albright, A.L., Marton, L.J., Lubich, W.P., Reigel, D.H. Arch. Neurol. (1983) [Pubmed]
  4. Quantification of glial fibrillary acidic protein (GFAP) in human body fluids by means of ELISA employing a monoclonal antibody. Albrechtsen, M., Bock, E. J. Neuroimmunol. (1985) [Pubmed]
  5. Arsenic as a teratogenic agent. Ferm, V.H. Environ. Health Perspect. (1977) [Pubmed]
  6. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Sertié, A.L., Quimby, M., Moreira, E.S., Murray, J., Zatz, M., Antonarakis, S.E., Passos-Bueno, M.R. Hum. Mol. Genet. (1996) [Pubmed]
  7. Intrauterine infection of mice with St. Louis encephalitis virus: immunological, physiological, neurological, and behavioral effects on progeny. Andersen, A.A., Hanson, R.P. Infect. Immun. (1975) [Pubmed]
  8. Orbital varices, cranial defects, and encephaloceles: an unrecognized association. Islam, N., Mireskandari, K., Burton, B.J., Rose, G.E. Ophthalmology (2004) [Pubmed]
  9. Transalar encephalocele associated with Wegener granulomatosis and meningeal enhancement: case report. Short, J., McKinney, A.M., Lucato, L.T., Teksam, M., Truwit, C.L. AJNR. American journal of neuroradiology. (2005) [Pubmed]
  10. ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Van Esch, H., Poirier, K., de Zegher, F., Holvoet, M., Bienvenu, T., Chelly, J., Devriendt, K., Fryns, J.P. Clin. Genet. (2004) [Pubmed]
  11. Endoscopic paranasal sinus surgery: radiographic evaluation of severe complications. Hudgins, P.A., Browning, D.G., Gallups, J., Gussack, G.S., Peterman, S.B., Davis, P.C., Silverstein, A.M., Beckett, W.W., Hoffman, J.C. AJNR. American journal of neuroradiology. (1992) [Pubmed]
  12. Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrafolate reductase genotypes, and neural tube closure sites. Wenstrom, K.D., Johanning, G.L., Owen, J., Johnston, K.E., Acton, S., Cliver, S., Tamura, T. Am. J. Med. Genet. (2000) [Pubmed]
  13. Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure. Gustavson, E.E., Chen, H. Teratology (1985) [Pubmed]
  14. Detecting neural tube defects by amniocentesis between 11 and 15 weeks' gestation. Crandall, B.F., Chua, C. Prenat. Diagn. (1995) [Pubmed]
  15. Survival of infants with neural tube defects in the presence of folic acid fortification. Bol, K.A., Collins, J.S., Kirby, R.S. Pediatrics (2006) [Pubmed]
  16. Optic nerve coloboma associated with renal disease. Weaver, R.G., Cashwell, L.F., Lorentz, W., Whiteman, D., Geisinger, K.R., Ball, M. Am. J. Med. Genet. (1988) [Pubmed]
  17. Developmental anterobasal temporal encephalocele and temporal lobe epilepsy. Leblanc, R., Tampieri, D., Robitaille, Y., Olivier, A., Andermann, F., Sherwin, A. J. Neurosurg. (1991) [Pubmed]
  18. Teratogenic effects of nigericin, a carboxylic ionophore. Vedel-Macrander, G.C., Hood, R.D. Teratology (1986) [Pubmed]
  19. Separation of neural and surface ectoderm after closure of the rostral neuropore. Hoving, E.W., Vermeij-Keers, C., Mommaas-Kienhuis, A.M., Hartwig, N.G. Anat. Embryol. (1990) [Pubmed]
  20. Physiological role of collagen XVIII and endostatin. Marneros, A.G., Olsen, B.R. FASEB J. (2005) [Pubmed]
  21. Congenital nasal masses: CT and MR imaging features in 16 cases. Barkovich, A.J., Vandermarck, P., Edwards, M.S., Cogen, P.H. AJNR. American journal of neuroradiology. (1991) [Pubmed]
  22. Dandy-Walker malformation in the Meckel syndrome. Summers, M.C., Donnenfeld, A.E. Am. J. Med. Genet. (1995) [Pubmed]
  23. Cranial defects in the Goldenhar syndrome. Wilson, G.N. Am. J. Med. Genet. (1983) [Pubmed]
  24. Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound. Wang, P., Chang, F.M., Chang, C.H., Yu, C.H., Jung, Y.C., Huang, C.C. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (1999) [Pubmed]
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