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Lacosamide for SCN2A-related intractable neonatal and infantile seizures Volume 20, issue 5, October 2018

  • [Baasch et al., 2014] Baasch A.L., Huning I., Gilsen C. Exome sequencing identifies a mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia and brain abnormality. Epilepsia. 2014;55:e25-e29. de novo SCN2A
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  • [Catterall, 2000] Catterall W.A. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron. 2000;26:13-25.
  • [Dilena et al., 2017] Dilena R., Stirano P., Gennaro E. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. Brain Dev. 2017;39:345-348.
  • [Gavatha et al., 2011] Gavatha M., Ionnou I., Papavasiliou A.S. Efficacy and tolerability of oral lacosamide as adjunctive therapy in pediatric patients with pharmacoresistant focal epilepsy. Epilepsy Behav. 2011;20:691-693.
  • [Herlenius et al., 2007] Herlenius E., Heron S.E., Grinton B.E. mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia. 2007;48:1138-1142. SCN2A
  • [Heyman et al., 2012] Heyman E., Lahat E., Levin N. Preliminary efficacy and safety of lacosamide in children with refractory epilepsy. Eur J Paediatr Neurol. 2012;16:15-19.
  • [Howell et al., 2015] Howell K.B., McMahon J.M., Carvill G.L. encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015;85:958-966. SCN2A
  • [Liao et al., 2010] Liao Y., Anttonen A.K., Liukkonen E. mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology. 2010;75:1454-1458. SCN2A
  • [Nakamura et al., 2012] Nakamura K., Kato M., Osaka H. clinical spectrum of mutations expanding to Ohtahara syndrome. Brain Dev. 2012;34:541-545. SCN2A
  • [Pisano et al., 2015] Pisano T., Numis A.L., Heavin S.B. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015;56:685-691.
  • [Rington et al., 2008] Rington A.C., Stöhr T., Heers C. The investigational anticonvulsant lacosamide selectively enhances slow inactivation of voltage-gated sodium channels. Mol Pharmacol. 2008;73:157-169.
  • [Rogawski et al., 2015] Rogawski M.A., Tofighy A., White H.S. Current understanding of the mechanism of action of the antiepileptic drug lacosamide. Epilepsy Res. 2015;110:189-205.
  • [Schwarz et al., 2016] Schwarz N., Hahn A., Bast T. Mutations in the sodium channel gene cause neonatal epilepsy with late-onset episodic ataxia. J Neurol. 2016;263:334-343. SCN2A
  • [Touma et al., 2013] Touma M., Joshi M., Connolly M.C. Whole-genome sequencing identifies mutation in monozygotic twins with Ohtahara syndrome and unique neuropathological findings. Epilepsia. 2013;54:e81-e85. SCN2A
  • [Wolff et al., 2017] Wolff M., Johannesen K.M., Hedrich U.B.S. Genetic and phenotypic heterogeneity suggest therapeutic implications in -related disorders. Brain. 2017;140:1316-1336. SCN2A