JLE

Epileptic Disorders

MENU

Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome Volume 20, numéro 6, December 2018

  • [Barnes et al., 2007] Barnes B.J., Tuong C.M., Mellen N.M. Functional imaging reveals respiratory network activity during hypoxic and opioid challenge in the neonate rat tilted sagittal slab preparation. J Neurophysiol. 2007;97:2283-2292.
  • [Bateman et al., 2008] Bateman L.M., Li C.S., Seyal M. Ictal hypoxemia in localization-related epilepsy: analysis of incidence, severity and risk factors. Brain. 2008;131:3239-3245.
  • [Bateman et al., 2010] Bateman L.M., Spitz M., Seyal M. Ictal hypoventilation contributes to cardiac arrhythmia and SUDEP: report on two deaths in video-EEG-monitored patients. Epilepsia. 2010;51:916-920.
  • [Bird et al., 1996] Bird L.M., Billman G.F., Lacro R.V. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996;129:926-931.
  • [Blum, 2009] Blum A.S. Respiratory physiology of seizures. J Clin Neurophysiol. 2009;26:309-315.
  • [Fusco et al., 2014] Fusco C., Micale L., Augello B. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Eur J Hum Genet. 2014;22:64-70.
  • [Genetics, 2001] Genetics C.O. American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics. 2001;107:1192-1204.
  • [Hosain et al., 2003] Hosain S., La Vega-Talbott M., Solomon G., Green N. Apneic seizures in infants: role of continuous EEG monitoring. Clin Electroencephalogr. 2003;34:197-200.
  • [Jin et al., 2017] Jin L., Zhang Y., Wang X.L., Zhang W.J., Liu Y.H., Jiang Z. Postictal apnea as an important mechanism for SUDEP: a near-SUDEP with continuous EEG-ECG-EMG recording. J Clin Neurosci. 2017;43:130-132.
  • [Marshall et al., 2008] Marshall C.R., Young E.J., Pani A.M. Infantile spasms is associated with deletion of the gene on chromosome 7q11.23-q21.11. Am J Hum Genet. 2008;83:106-111. MAGI2
  • [Mizugishi et al., 1998] Mizugishi K., Yamanaka K., Kuwajima K., Kondo I. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet. 1998;43:178-181.
  • [Morimoto et al., 2003] Morimoto M., An B., Ogami A. Infantile spasms in a patient with Williams syndrome and craniosynostosis. Epilepsia. 2003;44:1459-1462.
  • [Myers et al., 2013] Myers K.A., Mcleod D.R., Bello-Espinosa L. Infantile ictal apneas in a child with Williams-Beuren syndrome. Pediatr Neurol. 2013;48:149-151.
  • [Nicita et al., 2016] Nicita F., Garone G., Spalice A. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. Am J Med Genet A. 2016;170a:148-155.
  • [Popp et al., 2016] Popp B., Trollmann R., Buttner C. Do the exome: a case of Williams-Beuren syndrome with severe epilepsy due to a truncating variant in . Eur J Med Genet. 2016;59:549-553. de novoGABRA1
  • [Rothlisberger et al., 2010] Rothlisberger B., Hoigne I., Huber A.R., Brunschwiler W., Capone Mori A. Deletion of 7q11.21-q11.23 and infantile spasms without deletion of . Am J Med Genet A. 2010;152a:434-437. MAGI2
  • [Samanta, 2017] Samanta D. Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. Acta Neurol Belg. 2017;117:359-362.
  • [Schuele et al., 2011] Schuele S.U., Afshari M., Afshari Z.S. Ictal central apnea as a predictor for sudden unexpected death in epilepsy. Epilepsy Behav. 2011;22:401-403.
  • [Seyal and Bateman, 2009] Seyal M., Bateman L.M. Ictal apnea linked to contralateral spread of temporal lobe seizures: intracranial EEG recordings in refractory temporal lobe epilepsy. Epilepsia. 2009;50:2557-2562.
  • [So et al., 2000] So E.L., Sam M.C., Lagerlund T.L. Postictal central apnea as a cause of SUDEP: evidence from near-SUDEP incident. Epilepsia. 2000;41:1494-1497.
  • [Tercero et al., 2005] Tercero M.F., Cabrera Lopez J.C., Herrero M., Rodriguez-Quinones F. Williams-Beuren syndrome and West syndrome”: causal association or contiguous gene deletion syndrome? Am J Med Genet A. 2005;133a:213-215.
  • [Tieder et al., 2016] Tieder J.S., Bonkowsky J.L., Etzel R.A. Brief resolved unexplained events (formerly apparent life-threatening events) and evaluation of lower-risk infants. Pediatrics. 2016;137:2.
  • [Tsao and Westman, 1997] Tsao C.Y., Westman J.A. Infantile spasms in two children with Williams syndrome. Am J Med Genet. 1997;71:54-56.
  • [Wessel et al., 2004] Wessel A., Gravenhorst V., Buchhorn R., Gosch A., Partsch C.J., Pankau R. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A. 2004;127a:234-237.