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Koolen-de Vries syndrome associated with continuous spike-wave in sleep Volume 24, issue 5, October 2022

  • [1.] Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008; 45: 710-20.
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  • [3.] Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet 2012; 44: 639-41.
  • [4.] Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, et al. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet 2012; 44: 636-8.
  • [5.] Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, et al. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet 2015; 52: 804-14.
  • [6.] Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, et al. Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet 2009; 46: 480-9.
  • [7.] Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet 2016; 24: 652-9.
  • [8.] Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, et al. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. Epilepsia 2017; 58: 1085-94.
  • [9.] Turner SJ, Morgan AT, Perez ER, Scheffer IE. New genes for focal epilepsies with speech and language disorders. Curr Neurol Neurosci Rep 2015; 15: 35.
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  • [11.] Fernández IS, Chapman KE, Peters JM, Kothare SV, Nordli Jr DR, Jensen FE, et al. The tower of Babel: survey on concepts and terminology in electrical status epilepticus in sleep and continuous spikes and waves during sleep in North America. Epilepsia 2013; 54: 741-50.
  • [12.] Tassinari CA, Cantalupo G, Dalla Bernardina B, Darra F, Bureau M, Cirelli C, et al. Encephalopathy related to status epilepticus during slow sleep (ESES) including Landau-Kleffner syndrome. Epileptic syndromes in infancy, childhood and adolescence - 6th edition. Paris: John Libbey Eurotext Ltd, 2019.
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  • [14.] Sonnek B, Doring JH, Mutze U, Schubert-Bast S, Bast T, Balke D, et al. Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS). Eur J Paediatr Neurol 2021; 30: 121-7.
  • [15.] Nikanorova M, Miranda MJ, Atkins M, Sahlholdt L. Ketogenic diet in the treatment of refractory continuous spikes and waves during slow sleep. Epilepsia 2009; 50: 1127-31.
  • [16.] Ville D, Chiron C, Laschet J, Dulac O. The ketogenic diet can be used successfully in combination with corticosteroids for epileptic encephalopathies. Epilepsy Behav 2015; 48: 61-5.
  • [17.] Reyes G, Flesler S, Armeno M, Fortini S, Ariela A, Cresta A, et al. Ketogenic diet in patients with epileptic encephalopathy with electrical status epilepticus during slow sleep. Epilepsy Res 2015; 113: 126-31.
  • [18.] Marescaux C, Hirsch E, Finck S, Maquet P, Schlumberger E, Sellal F, et al. Landau-Kleffner syndrome: a pharmacologic study of five cases. Epilepsia 1990; 31: 768-77.