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Spasms, Infantile

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  1. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Kalscheuer, V.M., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kübart, S., Menzel, C., Hoeltzenbein, M., Tommerup, N., Eyre, H., Harbord, M., Haan, E., Sutherland, G.R., Ropers, H.H., Gécz, J. Am. J. Hum. Genet. (2003) [Pubmed]
  2. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.P., Schwinger, E., Gécz, J., Ropers, H.H., Kalscheuer, V.M. Am. J. Hum. Genet. (2004) [Pubmed]
  3. Choroid plexus papilloma and infantile spasms. Branch, C.E., Dyken, P.R. Ann. Neurol. (1979) [Pubmed]
  4. Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. Hedera, P., Alvarado, D., Beydoun, A., Fink, J.K. Ann. Neurol. (2002) [Pubmed]
  5. Reduced visual function associated with infantile spasms in children on vigabatrin therapy. Hammoudi, D.S., Lee, S.S., Madison, A., Mirabella, G., Buncic, J.R., Logan, W.J., Snead, O.C., Westall, C.A. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  6. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. Nasrallah, I.M., Minarcik, J.C., Golden, J.A. J. Cell Biol. (2004) [Pubmed]
  7. Treatment of intractable childhood epilepsy with high-dose valproate. Ohtsuka, Y., Amano, R., Mizukawa, M., Oka, E., Ohtahara, S. Epilepsia (1992) [Pubmed]
  8. Lamotrigine in infantile spasms. Veggiotti, P., Cieuta, C., Rex, E., Dulac, O. Lancet (1994) [Pubmed]
  9. Vigabatrin in infantile spasms. Chiron, C., Dulac, O., Luna, D., Palacios, L., Mondragon, S., Beaumont, D., Mumford, J.P. Lancet (1990) [Pubmed]
  10. Renal and pancreatic calcification during treatment of infantile spasms with ACTH. Hanefeld, F., Sperner, J., Rating, D., Rausch, H., Kaufmann, H.J. Lancet (1984) [Pubmed]
  11. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gécz, J. Am. J. Hum. Genet. (2004) [Pubmed]
  12. Infantile spasms: III. Prognostic implications of bitemporal hypometabolism on positron emission tomography. Chugani, H.T., Da Silva, E., Chugani, D.C. Ann. Neurol. (1996) [Pubmed]
  13. Comparison of monotherapy with valproate and other antiepileptic drugs in the treatment of seizure disorders. Chadwick, D. Am. J. Med. (1988) [Pubmed]
  14. Long-term response to zonisamide in patients with West syndrome. Suzuki, Y., Imai, K., Toribe, Y., Ueda, H., Yanagihara, K., Shimono, K., Okinaga, T., Ono, J., Nagai, T., Matsuoka, T., Tagawa, T., Abe, J., Morita, Y., Fujikawa, Y., Arai, H., Mano, T., Okada, S. Neurology (2002) [Pubmed]
  15. Treatment of infantile spasms with high-dose ACTH: efficacy and plasma levels of ACTH and cortisol. Snead, O.C., Benton, J.W., Hosey, L.C., Swann, J.W., Spink, D., Martin, D., Rej, R. Neurology (1989) [Pubmed]
  16. ACTH and prednisone in childhood seizure disorders. Snead, O.C., Benton, J.W., Myers, G.J. Neurology (1983) [Pubmed]
  17. Current management for epilepsy in tuberous sclerosis complex. Curatolo, P., Bombardieri, R., Cerminara, C. Curr. Opin. Neurol. (2006) [Pubmed]
  18. Genetic malformations of the cerebral cortex and epilepsy. Guerrini, R. Epilepsia (2005) [Pubmed]
  19. Elevated intraocular pressure associated with steroid treatment for infantile spasms. Friling, R., Weinberger, D., Zeharia, A., Lusky, M., Mimouni, M., Gaaton, D., Snir, M. Ophthalmology (2003) [Pubmed]
  20. Aicardi syndrome. Aicardi, J. Brain Dev. (2005) [Pubmed]
  21. Cerebrospinal fluid GABA levels in children with infantile spasms. Ito, M., Mikawa, H., Taniguchi, T. Neurology (1984) [Pubmed]
  22. Aicardi syndrome in one dizygotic twin. Constad, W.H., Wagner, R.S., Caputo, A.R. Pediatrics (1985) [Pubmed]
  23. ACTH(1-24) down-regulates expression of ciliary neurotrophic factor mRNA in cultured rat astrocyte. Kokubo, M., Asai, K., Yamamoto, N., Aoyama, M., Morikawa, M., Togari, H., Wada, Y., Kato, T. Pediatr. Res. (2002) [Pubmed]
  24. Nonpharmacologic treatment of the catastrophic epilepsies of childhood. Wheless, J.W. Epilepsia (2004) [Pubmed]
  25. Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis. Poirier, K., Lacombe, D., Gilbert-Dussardier, B., Raynaud, M., Desportes, V., de Brouwer, A.P., Moraine, C., Fryns, J.P., Ropers, H.H., Beldjord, C., Chelly, J., Bienvenu, T. Neurogenetics (2006) [Pubmed]
  26. Tuberous sclerosis as an underlying basis for infantile spasm. Yeung, R.S. Int. Rev. Neurobiol. (2002) [Pubmed]
  27. Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. Guerrini, R., Carrozzo, R. Seizure : the journal of the British Epilepsy Association. (2002) [Pubmed]
  28. Prognostic significance of tuber count and location in tuberous sclerosis complex. Doherty, C., Goh, S., Young Poussaint, T., Erdag, N., Thiele, E.A. J. Child Neurol. (2005) [Pubmed]
  29. Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. Baram, T.Z., Mitchell, W.G., Brunson, K., Haden, E. Dev. Neurosci. (1999) [Pubmed]
  30. ACTH does not control neonatal seizures induced by administration of exogenous corticotropin-releasing hormone. Baram, T.Z., Schultz, L. Epilepsia (1995) [Pubmed]
  31. Infantile spasms: I. PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. Chugani, H.T., Shields, W.D., Shewmon, D.A., Olson, D.M., Phelps, M.E., Peacock, W.J. Ann. Neurol. (1990) [Pubmed]
  32. Serum and CSF neuron-specific enolase in patients with West syndrome. Suzuki, Y., Toribe, Y., Goto, M., Kato, T., Futagi, Y. Neurology (1999) [Pubmed]
  33. ACTH versus vigabatrin therapy in infantile spasms: a retrospective study. Cossette, P., Riviello, J.J., Carmant, L. Neurology (1999) [Pubmed]
  34. Infantile spasms. Comparative trial of nitrazepam and corticotropin. Dreifuss, F., Farwell, J., Holmes, G., Joseph, C., Lockman, L., Madsen, J.A., Minarcik, C.J., Rothner, A.D., Shewmon, D.A. Arch. Neurol. (1986) [Pubmed]
  35. Age-specific N-methyl-D-aspartate-induced seizures: perspectives for the West syndrome model. Kábová, R., Liptáková, S., Slamberová, R., Pometlová, M., Velísek, L. Epilepsia (1999) [Pubmed]
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