Page 72 - Read Online
P. 72

Page 16 of 18                                                  Orsini et al. J Transl Genet Genom 2018;2:16. I  https://doi.org/10.20517/jtgg.2018.14

               70.  Møller RS, Dahl HA, Helbig I. The contribution of next generation sequencing to epilepsy genetics. Expert Rev Mol Diagn
                   2015;15:1531-8.
               71.  Myers CT, Mefford HC. Advancing epilepsy genetics in the genomic era. Genome Med 2015;7:91.
               72.  Covanis A. Clinical management of epileptic encephalopathies of childhood and infancy. Expert Rev Neurother 2014;14:687-701.
               73.  Striano P, Striano S. New and investigational antiepileptic drugs. Expert Opin Investig Drugs 2009;18:1875-84.
               74.  Striano P, Striano S, Minetti C, Zara F. Refractory, life-threatening status epilepticus in a 3-year-old girl. Lancet Neurol 2008;7:278-84.
               75.  Striano P, de Jonghe P, Zara F. Genetic epileptic encephalopathies: is all written into the DNA? Epilepsia 2013;54:22-6.
               76.  Brunklaus A, Zuberi SM. Dravet syndrome-from epileptic encephalopathy to channelopathy. Epilepsia 2014;55:979-84.
               77.  Balestrini S, Sisodiya SM. Pharmacogenomics in epilepsy. Neurosci Lett 2018;667:27-39.
               78.  Ceulemans B, Schoonjans AS, Marchau F, Paelinck BP, Lagae L. Five-year extended follow-up status of 10 patients with Dravet syndrome
                   treated with fenfluramine. Epilepsia 2016;57:e129-34.
               79.  Ceulemans B, Boel M, Leyssens K, Van Rossem C, Neels P, et al. Successful use of fenfluramine as an add-on treatment for Dravet
                   syndrome. Epilepsia 2012;53:1131-9.
               80.  McCann UD, Seiden LS, Rubin LJ, Ricaurte GA. Brain serotonin neurotoxicity and primary pulmonary hypertension from fenfluramine and
                   dexfenfluramine. A systematic review of the evidence. JAMA 1997;278:666-72.
               81.  Dahl CF, Allen MR, Urie PM, Hopkins PN. Valvular regurgitation and surgery associated with fenfluramine use: an analysis of 5743
                   individuals. BMC Med 2008;6:34.
               82.  Fuller RW, Snoddy HD, Robertson DW. Mechanisms of effects of d-fenfluramine on brain serotonin metabolism in rats: uptake inhibition
                   versus release. Pharmacol Biochem Behav 1988;30:715-21.
               83.  Dinday MT, Baraban SC. Large-scale phenotype-based antiepileptic drug screening in a zebrafish model of Dravet syndrome. eNeuro 2015;
                   doi: 10.1523/ENEURO.0068-15.2015.
               84.  Zhang Y, Kecskés A, Copmans D, Langlois M, Crawford AD, et al. Pharmacological characterization of an antisense knockdown zebrafish
                   model of Dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramine. PLoS One 2015;10:e0125898.
               85.  Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, et al. GRIN2A mutation and early-onset epileptic encephalopathy:
                   personalized therapy with memantine. Ann Clin Transl Neurol 2014;1:190-8.
               86.  Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia
                   2015;56:e114-20.
               87.  Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann
                   Neurol 2014;75:581-90.
               88.  Mikati MA, Jiang YH, Carboni M, Shashi V, Petrovski S, et al. Quinidine in the treatment of KCNT1-positive epilepsies. Ann Neurol
                   2015;78:995-9.
               89.  Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe
                   predilection. Brain 2008;131:818-28.
               90.  Daci A, Beretta G, Vllasaliu D, Shala A, Govori V, et al. Polymorphic variants of SCN1A and EPHX1 influence plasma carbamazepine
                   concentration, metabolism and pharmacoresistance in a population of Kosovar Albanian epileptic patients. PLoS One 2015;10:e0142408.
               91.  Ma CL, Wu XY, Jiao Z, Hong Z, Wu ZY, et al. SCN1A, ABCC2 and UGT2B7 gene polymorphisms in association with individualized
                   oxcarbazepine therapy. Pharmacogenomics 2015;16:347-60.
               92.  Grover S, Talwar P, Gourie-Devi M, Gupta M, Bala K, et al. Genetic polymorphisms in sex hormone metabolizing genes and drug response
                   in women with epilepsy. Pharmacogenomics 2010;11:1525-34.
               93.  Talwar P, Kanojia N, Mahendru S, Baghel R, Grover S, et al. Genetic contribution of CYP1A1 variant on treatment outcome in epilepsy
                   patients: a functional and interethnic perspective. Pharmacogenomics J 2017;17:242-51.
               94.  Franz DN, Agricola K, Mays M, Tudor C, Care MM, et al. Everolimus for subependymal giant cell astrocytoma: 5-year final analysis. Ann
                   Neurol 2015;78:929-38.
               95.  Marsan E, Ishida S, Schramm A, Weckhuysen S, Muraca G, et al. Depdc5 knockout rat: a novel model of mTORopathy. Neurobiol Dis
                   2016;89:180-9.
               96.  Galanopoulou AS, Gorter JA, Cepeda C. Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target. Epilepsia
                   2012;53:1119-30.
               97.  Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, et al. Mutations in mammalian target of rapamycin regulator DEPDC5
                   cause focal epilepsy with brain malformations. Ann Neurol 2014;75:782-7.
               98.  Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, et al. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X),
                   a de-ubiquitinase. PLoS Genet 2015;11:e1005022.
               99.  De Vivo DC, Leary L, Wang D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol 2002;17:3S15-23.
               100.  Simeone KA, Matthews SA, Rho JM, Simeone TA. Ketogenic diet treatment increases longevity inKcna1-null mice, a model of sudden
                   unexpected death in epilepsy. Epilepsia 2016;57:e178-82.
               101.  De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure 2013;22:803-11.
               102.  Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med
                   2006;12:307-9.
               103.  Zuberi SM, Brunklaus A. Epilepsy in 2017: precision medicine drives epilepsy classification and therapy. Nat Rev Neurol 2018;14:67-8.
   67   68   69   70   71   72   73   74   75   76   77