Novel treatment perspectives from advances in understanding of genetic epilepsy syndromes

Bibliography

• Fisher RS, Acevedo C, Arzimanoglou A, et al. ILAE official report: a practical clinical definition of epilepsy. Epilepsia. 2014;55:475–82.
   PubMed Web of Science ®Google Scholar
• Hauser WA, Annegers JF, Kurland LT. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984. Epilepsia. 1993;34:453–458.
   PubMed Web of Science ®Google Scholar
• Andrade DM, Minassian BA. Genetics of epilepsies. Expert Rev Neurother. 2007;7(6):727–734.
   PubMedGoogle Scholar
• Nicita F, De Liso P, Danti FR, et al. The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. Seizure. 2012;21(1):3–11.
   PubMed Web of Science ®Google Scholar
• Striano P, editor. Epilepsy towards the next decade – new trends and hopes in epileptology. Cham (Switzerland): Springer Science+Business Media; 2015.
   Google Scholar
• Myers CT, Mefford HC. Advancing epilepsy genetics in the genomic era. Genome Med. 2015;7(1):91.
   PubMed Web of Science ®Google Scholar
• Møller RS, Dahl HA, Helbig I. The contribution of next generation sequencing to epilepsy genetics. Expert Rev Mol Diagn. 2015;15(12):1531–8.
   PubMed Web of Science ®Google Scholar
• Striano P, Striano S. New and investigational antiepileptic drugs. Expert Opin Investig Drugs. 2009;18:1875–1884.
   PubMed Web of Science ®Google Scholar
• Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet. 2002;30(3):335–341.
   PubMed Web of Science ®Google Scholar
• Lal D, Reinthaler EM, Schubert J, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014;75(5):788–792.
   PubMed Web of Science ®Google Scholar
• Mantegazza M, Rusconi R, Scalmani P, et al. Epileptogenic ion channel mutations: from bedside to bench and, hopefully, back again. Epilepsy Res. 2010;92(1):1–29.
   PubMed Web of Science ®Google Scholar
• Dravet C, Oguni H. Dravet syndrome (severe myoclonic epilepsy in infancy). Handb Clin Neurol. 2013;111:627–633.
   PubMedGoogle Scholar
• Mancardi MM, Striano P, Gennaro E, et al. Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. Epilepsia. 2006;47(10):1629–1635.
   PubMed Web of Science ®Google Scholar
• Brunklaus A, Zuberi SM. Dravet syndrome–from epileptic encephalopathy to channelopathy. Epilepsia. 2014;55(7):979–984.
   PubMed Web of Science ®Google Scholar
• Covanis A. Clinical management of epileptic encephalopathies of childhood and infancy. Expert Rev Neurother. 2014;14(6):687–701.
   PubMed Web of Science ®Google Scholar
• Genton P, McMenamin J. Aggravation of seizures by antiepileptic drugs: what to do in clinical practice. Epilepsia. 1998;39:S26–29.
   PubMed Web of Science ®Google Scholar
• Striano P, Striano S, Minetti C, et al. Refractory, life-threatening status epilepticus in a 3-year-old girl. Lancet Neurol. 2008;7:278–284.
   PubMed Web of Science ®Google Scholar
• Larsen J, Carvill GL, Gardella E, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 2015;84(5):480–489.
   PubMed Web of Science ®Google Scholar
• Boerma RS, Braun KP, van de Broek MP, et al. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Neurotherapeutics. 2016;13(1):192–197. Erratum In: Neurotherapeutics. 2016;13(1):238
   PubMed Web of Science ®Google Scholar
• Weckhuysen S, Ivanovic V, Hendrickx R, et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81(19):1697–1703.
   PubMed Web of Science ®Google Scholar
• Numis AL, Angriman M, Sullivan JE, et al. . KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology. 2014 Jan 28;82(4):368–370.
   PubMed Web of Science ®Google Scholar
• Maljevic S, Lerche H. Potassium channel genes and benign familial neonatal epilepsy. Prog Brain Res. 2014;213:17–53.
   PubMed Web of Science ®Google Scholar
• Orhan G, Bock M, Schepers D, et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol. 2014;75(3):382–394.
   PubMed Web of Science ®Google Scholar
• Sachdeo R, Partiot A, Biton V, et al. A novel design for a dose finding, safety, and drug interaction study of an antiepileptic drug (retigabine) in early clinical development. Int J Clin Pharmacol Ther. 2014;52(6):509–518.
   PubMed Web of Science ®Google Scholar
• Ryther RC, Wong M. Mammalian Target of Rapamycin (mTOR) Inhibition: Potential for Antiseizure, Antiepileptogenic, and Epileptostatic Therapy. Curr Neurol Neurosci Rep.. 2012;12(4):410–418.
   PubMed Web of Science ®Google Scholar
• Meng XF, Yu JT, Song JH, et al. Role of the mTOR signaling pathway in epilepsy. J Neurol Sci. 2013. 15. 332(1–2):4–15.
   PubMed Web of Science ®Google Scholar
• Striano P, Zara F. Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. Nat Rev Neurol. 2012;8(10):542–544.
   PubMed Web of Science ®Google Scholar
• Mackeigan JP, Krueger DA. Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex. Neuro Oncol. 2015;17:1550–1559.
   PubMed Web of Science ®Google Scholar
• Wong M. A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials. Expert Rev Neurother. 2013;13:657–669.
   PubMed Web of Science ®Google Scholar
• Sadowski K, Kotulska-Jóźwiak K, Jóźwiak S. Role of mTOR inhibitors in epilepsy treatment. Pharmacol Rep. 2015;67(3):636–646.
   PubMed Web of Science ®Google Scholar
• Ricos MG, Hodgson BL, Pippucci T, et al. Mutations in the mTOR pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol. 2016;79(1):120–131.
   PubMed Web of Science ®Google Scholar
• Striano P, Serioli E, Santulli L, et al. DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. Epilepsia. 2015;56(10):e168–71.
   PubMed Web of Science ®Google Scholar
• Pearl PL, Yuezhou Y. Inherited pediatric metabolic epilepsies. Expert Opinion on Orphan Drugs. 2013;1(2):115–129.
   Web of Science ®Google Scholar
• Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133:655–670.
   PubMed Web of Science ®Google Scholar
• Larsen J, Johannesen KM, Ek J, et al. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia. 2015;56(12):e203–8.
   PubMed Web of Science ®Google Scholar
• Pearson TS, Akman C, Hinton VJ, Engelstad K. De Vivo DC Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep.. 2013;13(4):342.
   PubMed Web of Science ®Google Scholar
• Pascual JM, Liu P, Mao D, et al. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol. 2014;71(10):1255–1265.
   PubMed Web of Science ®Google Scholar
• Desguerre I, Hully M, Rio M, Nabbout R. Mitochondrial disorders and epilepsy. Rev Neurol (Paris). 2014;170(5):375–380.
   PubMed Web of Science ®Google Scholar
• Molinari F, Kaminska A, Fiermonte G, et al. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet. 2009;76(2):188–194.
   PubMed Web of Science ®Google Scholar
• Striano P, Coppola G, Zara F, Nabbout R. Genetic heterogeneity in malignant migrating partial seizures of infancy. Ann Neurol. 2014;75(2):324–326.
   PubMed Web of Science ®Google Scholar
• Pronicka E, Weglewska-Jurkiewicz A, Pronicki M, et al. Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene. Med Sci Monit. 2011;17(4):CR 203–9.
   Web of Science ®Google Scholar
• Stumpf JD, Saneto RP, Copeland WC. Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol. 2013;5(4):a011395.
   PubMed Web of Science ®Google Scholar
• Striano P, De Jonghe P, Zara F. Genetic epileptic encephalopathies: is all written into the DNA?. Epilepsia. 2013;54(Suppl 8):22–26.
   PubMed Web of Science ®Google Scholar
• Wang S, Zhang XQ, Song CG, et al. In vivo effects of bumetanide at brain concentrations incompatible with NKCC1 inhibition on newborn DGC structure and spontaneous EEG seizures following hypoxia-induced neonatal seizures. Neuroscience. 2015;286:203–215.
   PubMed Web of Science ®Google Scholar
• Kahle KT, Barnett SM, Sassower KC, Staley KJ. Decreased seizure activity in a human neonate treated with bumetanide, an inhibitor of the Na (+)-K(*)-2Cl(-) cotransporter NKCCl. J Child Neurol. 2009;24:572–576.
   PubMed Web of Science ®Google Scholar
• Ville D, Enjolras O, Chiron C, Dulac O. Prophylactic antiepileptic treatment in Sturge-Weber disease. Seizure. 2002;11(3):145–150.
   PubMed Web of Science ®Google Scholar
• Jóźwiak S, Kotulska K, Domańska-Pakieła D, et al. Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol. 2011;15:424–431.
   PubMed Web of Science ®Google Scholar
• Trinka E, Brigo F. Antiepileptogenesis in humans: disappointing clinical evidence and ways to move forward. Curr Opin Neurol. 2014;27(2):227–235.
   PubMed Web of Science ®Google Scholar