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KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures Volume 20, numéro 6, December 2018

  • [Abidi et al., 2015] Abidi A., Devaux J.J., Molinari F. A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters sub cellular localization of Kv7 channels. Neurobiol Dis. 2015;80:80-92.
  • [Cavaretta et al., 2014] Cavaretta J.P., Sherer K.R., Lee K.Y. Polarized axonal surface expression of neuronal KCNQ potassium channels is regulated by calmodulin interaction with KCNQ2 subunit. PLoS One. 2014;9:e103655.
  • [Cooper et al., 2000] Cooper E.C., Aldape K.D., Abosch A. Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. Proc Natl Acad Sci USA. 2000;97:4914-4919.
  • [Coppola, 2013] Coppola G. Malignant migrating partial seizures in infancy. Handb Clin Neurol. 2013;111:605-609.
  • [Dedek et al., 2003] Dedek K., Fusco L., Teloy N. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res. 2003;54:21-27.
  • [Devaux et al., 2004] Devaux J.J., Kleopa K.A., Cooper E.C. KCNQ2 is a nodal K+ channel. J Neurosci. 2004;24:1236-1244.
  • [Duan et al., 2018] Duan H., Peng J., Kessi M., Yin F. mutation in one case of epilepsy of infancy with migrating focal seizures that evolved to infantile spasms. Child Neurol Open. 2018;5:2329048X18767738. De novo KCNQ2
  • [Howell et al., 2015] Howell K.B., McMahon J.M., Carvill G.L. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015;85:958-966.
  • [Kojima et al., 2018] Kojima K., Shirai K., Kobayashi M. A patient with early myoclonic encephalopathy (EME) with a mutation. Brain & Dev. 2018;40:69-73. de novo KCNQ2
  • [Lim et al., 2016] Lim C.X., Ricos M.G., Dibbens L.M. mutations in seizure disorders: the phenotypic spectrum and functional effects. J Med Genet. 2016;53:217-225. KCNT1
  • [Millichap et al., 2016] Millichap J.J., Park K.L., Tsuchida T. KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016;2:e96.
  • [Niday et al., 2017] Niday Z., Hawkins V.E., Soh H. Epilepsy-associated KCNQ2 channels regulate multiple intrinsic properties of layer 2/3 pyramidal neurons. J Neurosci. 2017;37:576-586.
  • [Pisano et al., 2015] Pisano T., Numis A., Heavin S. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015;56:685-691.
  • [Spagnoli et al., 2018] Spagnoli C., Salerno G.G., Iodice A. KCNQ2 encephalopathy: a case due to a deletion. Brain Dev. 2018;40:65-68. de novo
  • [Weckhuysen et al., 2012] Weckhuysen S., Mandelstam S., Suls A. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012;71:15-25.