JLE

Epileptic Disorders

MENU

Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report Volume 21, numéro 5, October 2019

  • [Abhyankar et al., 2018] Abhyankar A., Lamendola-Essel M., Brennan K. Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency. Clin Case Rep. 2018;6:200-205.
  • [Alfadhel et al., 2015] Alfadhel M., Alrifai M.T., Trujillano D. Asparagine synthetase deficiency: new inborn errors of metabolism. JIMD Rep. 2015;22:11-16.
  • [Alrifai and Alfadhel, 2016] Alrifai M.T., Alfadhel M. Worsening of seizures after asparagine supplementation in a child with asparagine synthetase deficiency. Pediatr Neurol. 2016;58:98-100.
  • [Ben-Salem et al., 2015] Ben-Salem S., Gleeson J.G., Al-Shamsi A.M. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis. 2015;30:687-694.
  • [Dulac, 2018] Dulac, Dulac O. Epileptic spasms in all their states. Advanced San Servolo Epilepsy Course. San Servolo, Venice, Italy 16-27 July 2018.
  • [Galada et al., 2018] Galada C., Hebbar M., Lewis L. Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. Congenit Anom (Kyoto). 2018;58:181-182. 5
  • [Gataullina et al., 2016] Gataullina S., Lauer-Zillhardt J., Kaminska A. Epileptic phenotype of two siblings with asparagine synthesis deficiency mimics neonatal pyridoxine-dependent epilepsy. Neuropediatrics. 2016;47:399-403.
  • [Gupta et al., 2017] Gupta N., Tewari V.V., Kumar M. Asparagine synthetase deficiency-report of a novel mutation and review of literature. Metab Brain Dis. 2017;32:1889-1900.
  • [Lomelino et al., 2017] Lomelino C.L., Andring J.T., McKenna R., Kilberg M.S. Asparagine synthetase: function, structure, and role in disease. J Biol Chem. 2017;292:19952-19958.
  • [Palmer et al., 2015] Palmer E., Hayner J., Sachdev R. Asparagine synthetase deficiency causes reduced proliferation of cells under conditions of limited asparagine. Mol Genet Metab 2015;. 2015;116:178-186.
  • [Ruzzo et al., 2013] Ruzzo E.K., Capo-Chichi J.M., Ben-Zeev B. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 2013;80:429-441.
  • [Sacharow et al., 2017] Sacharow S.J., Dudenhausen E.E., Lomelino C.L. Characterization of a novel variant in siblings with asparagine synthetase deficiency. Mol Genet Metab. 2017;123:317-325.
  • [Schleinitz et al., 2018] Schleinitz D., Seidel A., Stassart R. Novel mutations in the asparagine synthetase gene () associated with microcephaly. Front Genet. 2018;9:245. ASNS
  • [Seidahmed et al., 2016] Seidahmed M.Z., Salih M.A., Abdulbasit O.B. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel mutations, case report. BMC Neurol. 2016;16:105. ASNS
  • [Sun et al., 2017] Sun J., McGillivray A.J., Pinner J. Diaphragmatic eventration in sisters with asparagine synthetase deficiency: a novel homozygous mutation and expanded phenotype. JIMD Rep. 2017;34:1-9. ASNS
  • [Yamamoto et al., 2017] Yamamoto T., Endo W., Ohnishi H. The first report of Japanese patients with asparagine synthetase deficiency. Brain Dev. 2017;39:236-242.