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Recent advances in pathophysiology studies and treatment of epilepsy in neurocutaneous disorders


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Alkonyi B., Chugani HT., Juhasz C.:Transient focal cortical increase of interictal glucose metabolism in Sturge-Weber syndrome: implications for epileptogenesis. Epilepsia, 2011, 52: 1265–1272.10.1111/j.1528-1167.2011.03066.xSearch in Google Scholar

Arun D., Gutmann D.H.:Recent advances in neurofibromatosis 1. Curr. Opin. Neurol., 2004, 17: 101–105.10.1097/00019052-200404000-00004Search in Google Scholar

Arzimanoglou A., Aicardi J.:The epilepsy of Sturge-Weber syndrome: clinical features and treatment in 23 patients. Acta Neurol. Scand., Suppl., 1992, 140: 18–22.10.1111/j.1600-0404.1992.tb04465.xSearch in Google Scholar

Barba C., Jaques T., Kahane P., Polster T., Isnard J., Leijten F.S. et al.:Epilepsy surgery in Neurofibromatosis Type 1. Epilepsy Res., 2013, 105: 384–395.10.1016/j.eplepsyres.2013.02.021Search in Google Scholar

Bebin E.M., Gomez M.R.:Prognosis in Sturge-Weber disease: comparison of unihemisspheric and bihemispheric involvement. J. Child. Neurol., 1992, 3: 181–184.10.1177/088307388800300306Search in Google Scholar

Benedikt R.A., Brown D.C., Walker R., Ghaed V.N., Mitchell M., Geyer C.A.:Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. Am. J. Neurorad., 1993, 14: 1409–1415. Chugani H.T., Luat A.F., Kumar A., Govindan R., Pawlik K., Asano E.:α-[11C]-Methyl-L-tryptophan-PET in 191 patients with tuberous sclerosis complex. Neurology, 2013, 81: 674–680. Chu-Shore C.J., Major P., Camposano S., Muzykewicz D., Thiele E.A.:The natural history of epilepsy in tuberous sclerosis complex. Epilepsia, 2010, 51: 1236–1241.Search in Google Scholar

Comi A.M.:Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphat. Res. Biol., 2007, 5: 257–264.10.1089/lrb.2007.1016Search in Google Scholar

Comi A.M., Bellamkonda S., Ferenc L.M., Cohen B.A., Germain-Lee E.L.:Central hypothyroidism and Sturge-Weber syndrome. Pediatr. Neurol., 2008, 39: 58–62.10.1016/j.pediatrneurol.2008.03.018Search in Google Scholar

Crumrine P.K.:Mamagement of seizures in Lennox-Gastaut syndrome. Paediatr. Drugs., 2011, 13: 107–118.10.2165/11536940-000000000-00000Search in Google Scholar

Curatolo P., Bombardieri R., Jóźwiak S.:Tuberous sclerosis. Lancet, 2008, 372: 657–668.10.1016/S0140-6736(08)61279-9Search in Google Scholar

Curatolo P., Jóźwiak S., Nabbout R.:Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations. Eur. J. Paediatr. Neurol., 2012, 16: 582–586.10.1016/j.ejpn.2012.05.00422695035Search in Google Scholar

DiFrancesco J.C., Sestini R., Cossu F., Bolognesi M., Sala E., Mariani S. et al.:Novel neurofibromatosis type 2 mutation presenting with status epilepticus. Epileptic Disord., 2014, 16: 132–137.10.1684/epd.2014.0647Search in Google Scholar

Domańska-Pakieła D., Kaczorowska M., Jurkiewicz E., Kotulska K., Dunin-Wąsowicz D., Jóźwiak S.:EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients-A prospective study of 5 patients. Eur. J. Paediatr. Neurology, 2014, 18: 458–468.10.1016/j.ejpn.2013.12.006Search in Google Scholar

Kossoff E.H., Borsage J.L., Comi A.L.:A pilot study of the modified Atkins diet for Sturge-Weber syndrome. Epilepsy Res., 2010, 92: 240–243.10.1016/j.eplepsyres.2010.09.008Search in Google Scholar

Elliot R.E., Carlson C., Kalhorn S.P., Moshel Y.A., Weiner H.L., Devinsky O. et al.:Refractory epilepsy in tuberous sclerosis: vagus nerve stimulation with or without subsequent resective surgery. Epilepsy Behav., 2009, 16: 454–460.10.1016/j.yebeh.2009.08.018Search in Google Scholar

Fallah A., Guyatt G.H., Snead O.C., Ebrahim S., Ibrahim G.M., Mansouri A. et al.:Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis. PLoS One., 2013, 8: e53565.10.1371/journal.pone.0053565Search in Google Scholar

Franz D.N., Belousova E., Sparagana S., Bebin E.M., Frost M., Kuperman R. et al.:Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet, 2013, 381: 125–132.10.1016/S0140-6736(12)61134-9Search in Google Scholar

Friedman D., Bogner M., Parker-Menzer K., Devinsky O.:Vigabatrin for partial-onset seizure treatment in patients with tuberous sclerosis complex. Epilepsy Behav., 2013, 27: 118–120. Guerreiro M.M., Andermann F., Andermann E., Palmini A., Hwang P., Hoffman H.J. et al.:Surgical treatment of epilepsy in tuberous sclerosis. Neurology, 1998, 51: 1263–1269.Search in Google Scholar

Gurecki P.J., Holden K.R., Sahn E.E., Dyer D.S., Cure J.K.:Developmental neural abnormalities and seizures in epidermal nevus syndrome. Dev. Med. Child. Neurol., 1996, 38: 716–723.10.1111/j.1469-8749.1996.tb12141.xSearch in Google Scholar

Happle R.:Epidermal nevus syndrome. Semin. Dermatol., 1995, 14: 111–121.10.1016/S1085-5629(05)80006-9Search in Google Scholar

Hennel S.J., Ekkert P.G., Volpe J.J., Inder T.E.:Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr. Neurol., 2003, 29: 148–150.10.1016/S0887-8994(03)00150-4Search in Google Scholar

Hsieh H.Y., Fung H.C., Wang C.J., Chin S.C., Wu T.:Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects. Seizure, 2011, 20: 606–611.10.1016/j.seizure.2011.04.01621621428Search in Google Scholar

Humphrey A., MacLean C., Ploubidis GB., Granader Y., Clifford M., Haslop M. et al.:Intellectual development before and after the onset of infantile spasms: a controlled prospective longitudinal study in tuberous sclerosis. Epilepsia, 2014, 55: 108–116. Hyman S.L., Gill D.S., Shores E.A., Steinberg A., Joy P., Gibikote S.V. et al.:Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1. Neurology, 2003, 60: 1139–1145.Search in Google Scholar

Ito M.:Studies of melanin IX. Incontinentia pigmenti achromians, a singular case of naevus depigmentosis systematicus bilateralis. Tohoku J. Exp. Med., 1952, 55: 57–59.Search in Google Scholar

Jagtap S., Srinivas G., Harsha K.J., Radhakrishnan N., Radhakrishnan A. et al.:Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients. J. Child. Neurol., 2013, 28: 725–731.10.1177/0883073812451326Search in Google Scholar

Jansen F.E., van Huffelen A.C., Algra A., van Nieuwenhuizen O.:Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia, 2007, 48: 1477–1484.10.1111/j.1528-1167.2007.01117.xSearch in Google Scholar

Jóźwiak J., Jóźwiak S., Włodarski P.:Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncology, 2008, 9: 73–79.10.1016/S1470-2045(07)70411-4Search in Google Scholar

Jóźwiak S., Kossoff E.H., Kotulska-Jóźwiak K.:Dietary treatment of epilepsy: rebirth of an ancient treatment. Neurol. Neurochir. Pol., 2011a, 45: 370–378.10.1016/S0028-3843(14)60108-0Search in Google Scholar

Jóźwiak S., Kotulska K., Domańska-Pakieła D., Łojszczyk B., Syczewska M., Chmielewski 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., 2011b, 15: 424–431.10.1016/j.ejpn.2011.03.01021507691Search in Google Scholar

Jóźwiak S.:Epilepsy and mental retardation in tuberous sclerosis complex – can we prevent them? In: T. Takahashi and Y. Fukuyama, Biology of Seizure Susceptibility in Developing Brain, John Libbey Eurotext, Montrouge 2008.Search in Google Scholar

Kossoff E.H., Thiele E.A., Pfeifer H.H., McGrogan J.R., Freeman J.M.:Tuberous sclerosis complex and the ketogenic diet. Epilepsia, 2005, 46: 1684–1686.10.1111/j.1528-1167.2005.00266.x16190943Search in Google Scholar

Kossoff E.H., Buck C., Freeman J.M.:Outcomes of 32 hemi-spherectomies for Sturge-Weber syndrome worldwide. Neurology, 2002, 59: 1735–1738.10.1212/01.WNL.0000035639.54567.5CSearch in Google Scholar

Kossoff E.H., Ferenc L., Comi A.M.:An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. Epilepsia, 2009, 50: 2154–2157.10.1111/j.1528-1167.2009.02072.x19389148Search in Google Scholar

Kothare S.V., Singh K., Chalifoux J.R., Staley B.A., Weiner H.L., Menzer K. et al.:Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia, 2014, Jun 10. doi: 10.1111/epi.12680. [Epub ahead of print].10.1111/epi.1268024917535Search in Google Scholar

Kotulska K., Chmielewski D., Borkowska J., Jurkiewicz E., Kuczyński D., Kmieć T. et al.:Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. Eur. J. Paediatr. Neurology., 2013, 17: 479–485.10.1016/j.ejpn.2013.03.00223567018Search in Google Scholar

Krsek P., Jahodova A., Kyncl M., Kudr M., Komarek V., Jezdik P. et al.:Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex. Epilepsia, 2013, 54: 1913–1921.10.1111/epi.12371Search in Google Scholar

Krueger D.A., Care M.M., Holland K., Agricola K., Tudor C., Mangeshkar P. et al.:Everolimus for subependymal giantcell astrocytomas in tuberous sclerosis. N. Engl. J. Med., 2010, 363: 1801–1811.10.1056/NEJMoa1001671Search in Google Scholar

Krueger D.A., Wilfong AA., Holland-Bouley K., Anderson A.E., Agricola K., Tudor C. et al.:Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann. Neurol., 2013, 74: 679–687.10.1002/ana.23960Search in Google Scholar

Kulkantrakorn K., Geller T.:Seizures in neurofibromatosis 1. Pediatr. Neurol., 1998, 19: 347–350.10.1016/S0887-8994(98)00075-7Search in Google Scholar

Kwiatkowski D.J., Manning B.D.:Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum. Mol. Genet., 2005, 4: 251–258.10.1093/hmg/ddi26016244323Search in Google Scholar

Lazarowski A., Ramos A.J., Garcia-Rivello H., Brusco A., Girardi E.:Neuronal and glial expression of the multidrug resistance gene product in an experimental epilepsy model. Cell. Mol. Neurobiol., 2004, 24: 77–85.10.1023/B:CEMN.0000012726.43842.d2Search in Google Scholar

Ma T.S., Elliott R.E., Ruppe V., Devinsky O., Kuzniecky R., Weiner H.L., Carlson C.:Electrocorticographic evidence of perituberal cortex epileptogenicity in tuberous sclerosis complex. J. Neurosurg. Pediatr., 2012, 10: 376–382.10.3171/2012.8.PEDS128522998031Search in Google Scholar

Maher C.O., Cohen-Gadol A.A., Raffel C.:Cortical resection for epilepsy in children with linear sebaceous nevus syndrome. Pediatr. Neurosurg., 2003, 39: 129–135.10.1159/00007164912876391Search in Google Scholar

Major P., Thiele E.A.:Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex. Epilepsy Behav., 2008, 13: 357–360.10.1016/j.yebeh.2008.04.00118468492Search in Google Scholar

Menon G., Nair S., Sudhir J., Rao B.R., Mathew A., Bahuleyan B.:Childhood and adolescent meningiomas: a report of 38 cases and review of literature. Acta Neurochir., 2009, 151: 239–244. Menor F., Marti-Bonmati L., Arana E.:Neurofibromatosis type 1 in children: MR imaging and follow-up studies of central nervous system findings. Eur. J. Radiol., 1998, 26: 121–131. Meuwissen M., Mancini G.:Neurological findings in incontinentia pigmenti; a review. Eur. J. Med. Genet., 2012, 55: 323–331.Search in Google Scholar

Muncy J., Butler I.J., Koenig M.K.:Rapamycin reduces seizures frequency in tuberous sclerosis complex. J. Child. Neurology, 2009, 24: 477.10.1177/0883073808324535307269619151365Search in Google Scholar

Nehal K.S., PeBenito R., Orlow S.J.:Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch. Dermatol., 1996, 132: 1167–1170.10.1001/archderm.132.10.1167Search in Google Scholar

North K.N.:Clinical aspects of neurofibromatosis 1. Eur. J. Paediatr. Neurol., 1998, 2: 223–231.10.1016/S1090-3798(98)80035-4Search in Google Scholar

Northrup H., Krueger D.A.:International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology, 2013, 49: 243–254.Search in Google Scholar

O’Callaghan F.J., Harris T., Joinson C., Bolton P., Noakes M., Presdee D. et al.:The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch. Dis. Child., 2004, 89: 530–533.10.1136/adc.2003.026815Search in Google Scholar

Ostendorf A.P., Gutmann D.H., Weisenberg J.L.:Epilepsy in individuals with neurofibromatosis type 1. Epilepsia, 2013, 54: 1810–1814.10.1111/epi.12348Search in Google Scholar

Parisi P., Bombardieri R., Curatolo P.:Current role of vigabatrin in infantile spasms. Eur. J. Paediatr. Neurol., 2007, 11: 331–336.10.1016/j.ejpn.2007.03.010Search in Google Scholar

Pascual-Castroviejo I., Pascual-Pascual S.I., Velazquez-Fragua R., Viano J.:Sturge-Weber syndrome: study of 55 patients. Can. J. Neurol. Sci., 2008, 35: 301–307.10.1017/S0317167100008878Search in Google Scholar

Pavonne L., Curatolo P., Rizzo R., Micali G., Incorpora G., Garg B.P. et al.:Epidermal nevus syndrome: a neurologic variant with hemimegalancephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. Neurology, 1991, 41: 266–271.10.1212/WNL.41.2_Part_1.266Search in Google Scholar

Perek-Polnik M., Jóźwiak S., Jurkiewicz E., Perek D., Kotulska K.:Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. Eur. J. Paediatr. Neurol., 2012, 16: 83–85.10.1016/j.ejpn.2011.09.006Search in Google Scholar

Roach E.S.:Neurocutaneous syndromes. Pediatr. Clin. North. Am., 1992, 39: 591–620.10.1016/S0031-3955(16)38367-5Search in Google Scholar

Rubi S., Costes N., Heckemann R.A., Bouvard S., Hammers A., Marti-Fuster B. et al.:Positron emission tomography with α-[11C]methyl-L-tryptophan in tuberous sclerosis complex-related epilepsy. Epilepsia, 2013, 54: 2143–2150.10.1111/epi.1241224304437Search in Google Scholar

Shen M.H., Harper P.S., Upadhyaya M.:Molecular genetics of neurofibromatosis type 1 (NF1). J. Med. Genet., 1996, 33: 2–17. Shepherd C.W. Gomez M.R., Lie J.T, Crowson C.S.:Causes of death in patients with tuberous sclerosis. Mayo Clin. Proc., 1991, 66: 792–796.Search in Google Scholar

Shirley M.D., Tang H., Gallione C.J., Baugher J.D., Frelin L. P., Cohen B. et al.:Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N. Eng. J. Med., 2013, 368: 1971–1979.10.1056/NEJMoa1213507374906823656586Search in Google Scholar

Sparagana S.P., Delgado M.R., Batchelor R.R., Roach E.S.:Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex. Arch. Neurol., 2003, 60: 1286–1289.10.1001/archneur.60.9.128612975296Search in Google Scholar

Sujansky E., Conradi S.:Outcome of Sturge-Weber syndrome in 52 adults. Am. J. Med. Genet., 1995, 57: 35–45.10.1002/ajmg.13205701107645596Search in Google Scholar

Talos D.M., Sun H., Zhou X., Fitzgerald E.C., Jackson M.C., Klein P.M. et al.:The interaction between early life epilepsy and autistic-like behavioralconsequences: a rolefor the mammalian target of rapamycin (mTOR) pathway. PLoS One, 2012, 7: e35885.10.1371/journal.pone.0035885334233422567115Search in Google Scholar

Thiele E.A.:Managing epilepsy in tuberous sclerosis complex. J. Child. Neurol., 2004, 19: 680–686.10.1177/0883073804019009080115563014Search in Google Scholar

Ville D., Enjolras O., Chiron C., Dulac O.:Prophylactic antiepileptic treatment in Sturge-Weber disease. Seizure, 2002, 11: 145–150.10.1053/seiz.2001.062912018956Search in Google Scholar

Vivarelli R., Grosso S., Calabrese F., Farnetani M., Galluzzi P., Vatti G.P. et al.:Epilepsy in neurofibromatosis 1. J. Child. Neurol., 2003, 18: 338–342.10.1177/0883073803018005050112822818Search in Google Scholar

Webb D.W., Fryer A.E., Osborne J.P.:Morbidity associated with tuberous sclerosis: a population study. Dev. Med. Child. Neurol., 1996, 38: 146–155.10.1111/j.1469-8749.1996.tb12086.x8603782Search in Google Scholar

Wheless J.W., Clarke D.F., Arzimanoglou A., Carpenter D.:Treatment of pediatric epilepsy: European expert opinion, 2007. Epileptic Disord., 2007, 9: 353–412.Search in Google Scholar

Wiederholt W.C., Gomez M.R., Kurland L.T.:Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology, 1985, 35: 600–603.10.1212/WNL.35.4.600Search in Google Scholar

Wong M.:Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies. Epilepsia, 2010, 51: 27–36.10.1111/j.1528-1167.2009.02341.x302251319817806Search in Google Scholar

Wu J.Y., Salamon N., Kirsch H.E., Mantle M.M., Nagarajan S.S., Kurelowech L. et al.:Noninvasive testing, early surgery and seizure freedom in tuberous sclerosis complex. Neurology, 2010, 74: 392–398.10.1212/WNL.0b013e3181ce5d9e281600720124204Search in Google Scholar

Yates J.R.:Tuberous sclerosis. Eur. J. Hum. Genet., 2006, 14: 1065–1073.10.1038/sj.ejhg.520162516868562Search in Google Scholar

Zhang B., McDaniel S.S., Rensing N.R., Wong M.:Vigabatrin inhibits seizures and mTOR pathway activation in a mouse model of tuberous sclerosis complex. PLoS One, 2013, 8: e57445.10.1371/journal.pone.0057445357771023437388Search in Google Scholar

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