Juvenil Miyoklonik Epilepsi
Özet
Juvenil Miyoklonik Epilepsi sık görülen jeneralize epilepsi formlarından biridir. Nöbetler sıklıkla ergenlik döneminde görülür. En önemli bulgu ve nöbet tipi miyoklonik nöbetlerdir. Jeneralize tonik klonik ve absans nöbetler görülebilir. EEG’de 3-5.5 Hz frekansında jeneralize diken ve coklu diken dalga aktiviteleri görülür. Beyin manyetik rezonans görüntülemede anormallik beklenmez. Tedavide sodyum valproat etkinliği nedeniyle ilk tercih ilaç kabul edilir. Valproatın teratojenite riski nedeniyle ergenlik dönemindeki kızlara ve gebelik potansiyeli olanlara alternatif ilaç tedavileri önerilmektedir. Uygun ilaç ve yaşam tarzı önerileriyle sıklıkla nöbet kontrolü sağlanır. Nöbet ilaçlarına direnç, bilişsel gerileme olması durumunda progresif miyoklonik epilepsiler araştırılmalıdır. Tedavi sıklıkla ömür boyu kabul edilir.
Juvenile Myoclonic Epilepsy is one of the most common forms of generalized epilepsy. The onset of seizures usually occurs in adolescence. The most important sign of the disease are myoclonic seizures. Generalized tonic clonic and absence seizures may be observed. Generalized 3–5.5-Hz spike-wave and polyspike-wave are seen on EEG. No abnormality is expected on brain magnetic resonance imaging. Sodium valproate is considered the first choice drug for treatment. Due to teratogenicity risk of valproate, it is not recommended for girls of childbearing potential and alternative medicine treatments are recommended. Seizure control is often achieved with appropriate medication and lifestyle recommendations. Progressive myoclonic epilepsies should be investigated in case of resistance to seizure medication and cognitive decline. Treatment is often considered lifelong.
Referanslar
Herpin T. Des accès incomplets d’épilepsie. Paris: J.B. Baillière et Fils; 1867. p. 203–4.
Rabot L. De la myoclonie épileptique. Thèse. Paris: Georges Carré et C. Naud; 1899.
Janz, D., Christian, W. Impulsiv — Petit mal. J. Neurol 1957. 176,346—386.
Lund M, Reintoft H, Simonsen N. Eine kontrollierte soziologische und psychologische Untersuchung on patienten mit juveniler myoklonischer epilepsie. Nervenarzt 1976;47: 708–12.
Commission for Classification and Terminology of the International League Against Epilepsy, 1985. Proposal for classification of epilepsies and epileptic syndromes. Epilepsia 26,268—278.
Hauser WA. The prevalence and incidence of convulsive disorders in children. Epilepsia 1994; 35 Suppl 2:S1.
Janz, D. Juvenile myoclonic epilepsy; epilepsy with impulsive petit mal. Cleveland Clinic Journal of Medicine 1989,56;23-33
Kleveland G, Engelsen BA. Juvenile myoclonic epilepsy: clinical characteristics, treatment and prognosis in a Norwegian population of patients. Seizure 1998; 7:31.
Janz D. Juvenile myoclonic epilepsy. In: Engel P, Pedley TA, editors. Epilepsy: a comprehensive textbook. Philadelphia: Lippincott Williams & Wilkins; 1998. p. 2389–400.
Iqbal N, Caswell H, Muir R et al. Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: an extended study. Epilepsia. 2015;56:1301–8.
Chawla T, Chaudhry N, Puri V. Cognitive dysfunction in juvenile myoclonic epilepsy (JME) – a tertiary care center study. Ann Indian Acad Neurol. 2021;24:40–50
de Araujo Filho GM, Yacubian EM. Juvenile myoclonic epilepsy: psychiatric comorbidity and impact on outcome. Epilepsy Behav. 2013;28(Suppl 1):S74–80
Elmali AD, Auvin S, Bast T, Rubboli G, Koutroumanidis M. How to diagnose and classify idiopathic (genetic) generalized epilepsies. Epileptic Disord. 2020;22:399–420.
Mayer, T.A., Schroeder, F., May, T.W., Wolf, P.T., 2006. Perioral reflexmyoclonias: a controlled study in patients with JME and focalepilepsies. Epilepsia 47, 1059—1067.
Janz, D. Epilepsy with impulsive petit mal (juvenilemyoclonic epilepsy). Acta Neurol. Scand 1985. 72, 449—459.
Panayiotopoulos, C.P., Obeid, T., Waheed, G. Absences in juvenile myoclonic epilepsy: a clinical andvideo-electroencephalographic study. Ann. Neurol 1989. 25,391—397.
Genton P, Thomas P, Kasteleijn-Nolst Trenite DG, Medina MT, Salas-Puig J. Clinical aspects of juvenile myoclonic epilepsy. Epilepsy Behav. 2013;28(Suppl 1):S8–14.
Wirrell, E.C., Camfield, C.S., Camfield, P.R., Gordon, K.E., Dooley,J.M. Long-term prognosis of typical childhood absence epilepsy. Neurology 1996. 47, 912—918.
Hirsch E, French J, Scheffer IE, et al. ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1475-1499. doi:10.1111/epi.17236
Appleton, R., Beirne, M., Acomb, B., Photosensitivity in juvenile myoclonic epilepsy. Seizure 2000; 9, 108—111.
Covanis, A., 2010. Jeavons syndrome. In: Panayiotopoulos, C.P.(Ed.), Atlas of Epilepsies. Springer, London, pp. 1080—1091.
Guaranha MS, Filho GM, Lin K, Guilhoto LM, Caboclo LO, Yacubian EM. Prognosis of juvenile myoclonic epilepsy is related to endophenotypes. Seizure. 2011;20(1):42-48.
Wolf, P., 1992. Reading epilepsy. In: Roger, J., Bureau, M., Dravet Ch,Dreifuss, F.E., Perret, A., Wolf, P. (Eds.), Epileptic Syndromes inInfancy, Childhood and Adolescence. , 2nd ed. J. Libbey, London,pp. 281—298.
Sadleir LG, Scheffer IE, Smith S, Carstensen B, Farrell K, Connolly MB. EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state. Epilepsia. 2009;50:1572–8.
Koutroumanidis M, Arzimanoglou A, Caraballo R, et al. The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 1). Epileptic Disord. 2017;19:233–98.
F. G. Woermann, S. L. Free, M. J. Koepp, S. M. Sisodiya, J. S. Duncan, Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI, Brain, Volume 122, Issue 11, November 1999, Pages 2101–2108, https://doi.org/10.1093/brain/122.11.2101
Mory SB, Betting LE, Fernandes PT, et al. Structural abnormalities of the thalamus in juvenile myoclonic epilepsy. Epilepsy Behav. 2011;21(4):407-411. doi:10.1016/j.yebeh.2011.05.018
Kabay SC, Gumustas OG, Karaman HO, Ozden H, Erdinc O. A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. Eur J Paediatr Neurol. 2010;14(3):224-228. doi:10.1016/j.ejpn.2009.06.004
Marini C, Scheffer IE, Crossland KM, et al. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia. 2004;45:467–78.
Santos BPD, Marinho CRM, Marques T, et al. Genetic susceptibility in juvenile myoclonic epilepsy: systematic review of genetic association studies. PLoS One. 2017;12:e0179629.
Heyne HO, Artomov M, Battke F, et al. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genet Med. 2019;21:2496–503.
Helbig I, Mefford HC, Sharp AJ, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009;41:160–2
de Kovel CG, Trucks H, Helbig I, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 2010;133:23–32.
Mantoan L, Walker M. Treatment options in juvenile myoclonic epilepsy. Curr Treat Options Neurol. 2011;13(4):355-370. doi:10.1007/s11940-011-0131-z
Crespel A, Gelisse P, Reed RC, et al. Management of juvenile myoclonic epilepsy. Epilepsy Behav. 2013;28 Suppl 1:S81-S86. doi:10.1016/j.yebeh.2013.01.001
Commission on Classification and Terminology of the International League Against Epilepsy: proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389–99.
Penry JK, Dean JC, Riela AR Juvenile myoclonic epilepsy: long term response to therapy Epilepsia 1989; 30 (suppl 4): 19-23
Marson AG, Al-Kharusi AM, Alwaidh M, et al. The SANAD study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: an unblinded randomised controlled trial. Lancet. 2007;369(9566):1016–26.
Christensen J, Gronborg TK, Sorensen MJ, et al Prenatal valproate exposure and risk of autism spectrum disorders and childhoo autism JAMA 2013; 309: 1696-1703
Medicines and Healthcare Products Regulation Agency Medicines related to valproate-risk of abnormal preganancy outcomes 2015.
Isojärvi JI, Laatikainen TJ, Pakarinen AJ, Juntunen KT, Myllylä VV. Polycystic ovaries and hyperandrogenism in women taking valproate for epilepsy. N Eng J Med 1993; 329: 1383-8
Specchio LM, Gambardella A, Giallonardo AT, et al. Open label, long-term, pragmatic study on levetiracetam in the treatment of juvenile myoclonic epilepsy. Epilepsy Res 2006;71:32–9.
Verrotti A, Cerminara C, Coppola G, et al. Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents. Dev Med Child Neurol 2008;50:29–32.
Sharpe DV, Patel AD, Abou-Khalil B, Fenichel GM. Levetiracetam monotherapy in juvenile myoclonic epilepsy. Seizure 2008;17(1):64–8.
Kılıç B, Serdaroğlu E, Polat BG, et al. Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020. Seizure. 2022;99:48-53. doi:10.1016/j.seizure.2022.05.005
Nicolson A, Appleton RE, Chadwick DW, Smith DF. The relationship between treatment with valproate, lamotrigine, and topiramate and the prognosis of the idiopathic generalised epilepsies. J Neurol Neurosurg Psychiatry 2004;75:75–9
Crespel A, Genton P, BerramdaneM, et al. Lamotrigine associatedwith exacerbation or de novo myoclonus in idiopathic generalized epilepsies. Neurology 2005;65:762–4.
Levisohn PM, Holland KD. Topiramate or valproate in patients with juvenile myoclonic epilepsy: a randomized open-label comparison. Epilepsy Behav 2007;10: 547–52.
Biton V, Bourgeois BFD. YTC/YTCE Study Investigatirs: topiramate in patients with juvenile myoclonic epilepsy. Arch Neurol. 2005;62(11):1705–8.
de Araujo Filho GM, Pascalicchio TF, Lin K, Sousa PS, Yacubian EM. Neuropsychiatric profiles of patients with juvenile myoclonic epilepsy treated with valproate or topiramate. Epilepsy Behav 2006;8:606–9.
Kothare SV, Valencia I, Khurana DS, Hardison H, Melvin JJ, Legido A. Efficacy and tolerability of zonisamide in juvenile myoclonic epilepsy. Epileptic Disord
NICE Guideline. The epilepsies: the diagnosis and management of the epilepsies in adults and children in primary and secondary care: pharmacological update of clinical guideline 20. London, Royal College of Physicians (UK): National Clinical Guideline Centre; 2012 www.nice.org.uk/guidance/ng217
Obeid T, Panayiotopoulos CP. Clonazepam in juvenile myoclonic epilepsy. Epilepsia 1989;30:603–606.
Brigo F, Igwe SC, Lattanzi S. Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. Cochrane Database Syst Rev. 2019;2:CD003032.
Genton P, Gelisse P, Thomas P, Dravet C. Do carbamazepine and phenytoin aggravate juvenile myoclonic epilepsy? Neurology 2000;55:1106–1109.)
Knott C, Panayiotopoulos CP. Carbamazepine in the treatment of generalised tonic clonic seizures in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry. 1994;57(4):503.
Kostov H, Larsson PG, Røste GK. Is vagus nerve stimulation a treatment option for patients with drug-resistant idiopathic generalized epilepsy? Acta Neurol Scand Suppl. 2007;187:55–8.
Kossoff EH, Henry BJ, Cervenka MC. Efficacy of dietary therapy for juvenile myoclonic epilepsy. Epilepsy Behav. 2013;26(2):162-164. doi:10.1016/j.yebeh.2012.11.007
Gelisse P, Genton P, Thomas P, Rey M, Samuelian JC, Dravet C. Clinical factors of drug resistance in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry 2001;70: 240–3.
Gomez-Ibañez A, McLachlan RS, Mirsattari SM, Diosy DC, Burneo JG. Prognostic factors in patients with refractory idiopathic generalized epilepsy. Epilepsy Res. 2017;130:69-73. doi:10.1016/j.eplepsyres.2017.01.011
Kitazawa Y, Jin K, Kakisaka Y, Fujikawa M, Tanaka F, Nakasato N. Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types. Epilepsy Res. 2018;144:20-24. doi:10.1016/j.eplepsyres.2018.04.009
Komatsubara T, Kobayashi Y, Hiraiwa A, et al. Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy. Epilepsia Open. 2022;7(2):332-343. doi:10.1002/epi4.12603
Höfler J, Unterberger I, Dobesberger J, Kuchukhidze G, Walser G, Trinka E. Seizure outcome in 175 patients with juvenile myoclonic epilepsy--a long-term observational study. Epilepsy Res. 2014;108(10):1817-1824. doi:10.1016/j.eplepsyres.2014.09.008
Martin J Brodie. Modern management of juvenile myoclonic epilepsy, Expert Review of Neurotherapeutics 2016
Chowdhury A, Brodie MJ. Pharmacological outcomes in juvenile myoclonic epilepsy: Support for sodium valproate. Epilepsy Res. 2016;119:62-66. doi:10.1016/j.eplepsyres.2015.11.012
Kasteleijn-Nolst Trenite DG, Schmitz B, Janz D, et al. Consensus on diagnosis and management of JME: from founder’s observations to current trends. Epilepsy Behav. 2013;28(Suppl 1):S87-90.
Genton P, Gelisse P. Premature death in juvenile myoclonic epilepsy. Acta Neurol Scand 2001;104:125–9.
Referanslar
Herpin T. Des accès incomplets d’épilepsie. Paris: J.B. Baillière et Fils; 1867. p. 203–4.
Rabot L. De la myoclonie épileptique. Thèse. Paris: Georges Carré et C. Naud; 1899.
Janz, D., Christian, W. Impulsiv — Petit mal. J. Neurol 1957. 176,346—386.
Lund M, Reintoft H, Simonsen N. Eine kontrollierte soziologische und psychologische Untersuchung on patienten mit juveniler myoklonischer epilepsie. Nervenarzt 1976;47: 708–12.
Commission for Classification and Terminology of the International League Against Epilepsy, 1985. Proposal for classification of epilepsies and epileptic syndromes. Epilepsia 26,268—278.
Hauser WA. The prevalence and incidence of convulsive disorders in children. Epilepsia 1994; 35 Suppl 2:S1.
Janz, D. Juvenile myoclonic epilepsy; epilepsy with impulsive petit mal. Cleveland Clinic Journal of Medicine 1989,56;23-33
Kleveland G, Engelsen BA. Juvenile myoclonic epilepsy: clinical characteristics, treatment and prognosis in a Norwegian population of patients. Seizure 1998; 7:31.
Janz D. Juvenile myoclonic epilepsy. In: Engel P, Pedley TA, editors. Epilepsy: a comprehensive textbook. Philadelphia: Lippincott Williams & Wilkins; 1998. p. 2389–400.
Iqbal N, Caswell H, Muir R et al. Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: an extended study. Epilepsia. 2015;56:1301–8.
Chawla T, Chaudhry N, Puri V. Cognitive dysfunction in juvenile myoclonic epilepsy (JME) – a tertiary care center study. Ann Indian Acad Neurol. 2021;24:40–50
de Araujo Filho GM, Yacubian EM. Juvenile myoclonic epilepsy: psychiatric comorbidity and impact on outcome. Epilepsy Behav. 2013;28(Suppl 1):S74–80
Elmali AD, Auvin S, Bast T, Rubboli G, Koutroumanidis M. How to diagnose and classify idiopathic (genetic) generalized epilepsies. Epileptic Disord. 2020;22:399–420.
Mayer, T.A., Schroeder, F., May, T.W., Wolf, P.T., 2006. Perioral reflexmyoclonias: a controlled study in patients with JME and focalepilepsies. Epilepsia 47, 1059—1067.
Janz, D. Epilepsy with impulsive petit mal (juvenilemyoclonic epilepsy). Acta Neurol. Scand 1985. 72, 449—459.
Panayiotopoulos, C.P., Obeid, T., Waheed, G. Absences in juvenile myoclonic epilepsy: a clinical andvideo-electroencephalographic study. Ann. Neurol 1989. 25,391—397.
Genton P, Thomas P, Kasteleijn-Nolst Trenite DG, Medina MT, Salas-Puig J. Clinical aspects of juvenile myoclonic epilepsy. Epilepsy Behav. 2013;28(Suppl 1):S8–14.
Wirrell, E.C., Camfield, C.S., Camfield, P.R., Gordon, K.E., Dooley,J.M. Long-term prognosis of typical childhood absence epilepsy. Neurology 1996. 47, 912—918.
Hirsch E, French J, Scheffer IE, et al. ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1475-1499. doi:10.1111/epi.17236
Appleton, R., Beirne, M., Acomb, B., Photosensitivity in juvenile myoclonic epilepsy. Seizure 2000; 9, 108—111.
Covanis, A., 2010. Jeavons syndrome. In: Panayiotopoulos, C.P.(Ed.), Atlas of Epilepsies. Springer, London, pp. 1080—1091.
Guaranha MS, Filho GM, Lin K, Guilhoto LM, Caboclo LO, Yacubian EM. Prognosis of juvenile myoclonic epilepsy is related to endophenotypes. Seizure. 2011;20(1):42-48.
Wolf, P., 1992. Reading epilepsy. In: Roger, J., Bureau, M., Dravet Ch,Dreifuss, F.E., Perret, A., Wolf, P. (Eds.), Epileptic Syndromes inInfancy, Childhood and Adolescence. , 2nd ed. J. Libbey, London,pp. 281—298.
Sadleir LG, Scheffer IE, Smith S, Carstensen B, Farrell K, Connolly MB. EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state. Epilepsia. 2009;50:1572–8.
Koutroumanidis M, Arzimanoglou A, Caraballo R, et al. The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 1). Epileptic Disord. 2017;19:233–98.
F. G. Woermann, S. L. Free, M. J. Koepp, S. M. Sisodiya, J. S. Duncan, Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI, Brain, Volume 122, Issue 11, November 1999, Pages 2101–2108, https://doi.org/10.1093/brain/122.11.2101
Mory SB, Betting LE, Fernandes PT, et al. Structural abnormalities of the thalamus in juvenile myoclonic epilepsy. Epilepsy Behav. 2011;21(4):407-411. doi:10.1016/j.yebeh.2011.05.018
Kabay SC, Gumustas OG, Karaman HO, Ozden H, Erdinc O. A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. Eur J Paediatr Neurol. 2010;14(3):224-228. doi:10.1016/j.ejpn.2009.06.004
Marini C, Scheffer IE, Crossland KM, et al. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia. 2004;45:467–78.
Santos BPD, Marinho CRM, Marques T, et al. Genetic susceptibility in juvenile myoclonic epilepsy: systematic review of genetic association studies. PLoS One. 2017;12:e0179629.
Heyne HO, Artomov M, Battke F, et al. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genet Med. 2019;21:2496–503.
Helbig I, Mefford HC, Sharp AJ, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009;41:160–2
de Kovel CG, Trucks H, Helbig I, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 2010;133:23–32.
Mantoan L, Walker M. Treatment options in juvenile myoclonic epilepsy. Curr Treat Options Neurol. 2011;13(4):355-370. doi:10.1007/s11940-011-0131-z
Crespel A, Gelisse P, Reed RC, et al. Management of juvenile myoclonic epilepsy. Epilepsy Behav. 2013;28 Suppl 1:S81-S86. doi:10.1016/j.yebeh.2013.01.001
Commission on Classification and Terminology of the International League Against Epilepsy: proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389–99.
Penry JK, Dean JC, Riela AR Juvenile myoclonic epilepsy: long term response to therapy Epilepsia 1989; 30 (suppl 4): 19-23
Marson AG, Al-Kharusi AM, Alwaidh M, et al. The SANAD study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: an unblinded randomised controlled trial. Lancet. 2007;369(9566):1016–26.
Christensen J, Gronborg TK, Sorensen MJ, et al Prenatal valproate exposure and risk of autism spectrum disorders and childhoo autism JAMA 2013; 309: 1696-1703
Medicines and Healthcare Products Regulation Agency Medicines related to valproate-risk of abnormal preganancy outcomes 2015.
Isojärvi JI, Laatikainen TJ, Pakarinen AJ, Juntunen KT, Myllylä VV. Polycystic ovaries and hyperandrogenism in women taking valproate for epilepsy. N Eng J Med 1993; 329: 1383-8
Specchio LM, Gambardella A, Giallonardo AT, et al. Open label, long-term, pragmatic study on levetiracetam in the treatment of juvenile myoclonic epilepsy. Epilepsy Res 2006;71:32–9.
Verrotti A, Cerminara C, Coppola G, et al. Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents. Dev Med Child Neurol 2008;50:29–32.
Sharpe DV, Patel AD, Abou-Khalil B, Fenichel GM. Levetiracetam monotherapy in juvenile myoclonic epilepsy. Seizure 2008;17(1):64–8.
Kılıç B, Serdaroğlu E, Polat BG, et al. Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020. Seizure. 2022;99:48-53. doi:10.1016/j.seizure.2022.05.005
Nicolson A, Appleton RE, Chadwick DW, Smith DF. The relationship between treatment with valproate, lamotrigine, and topiramate and the prognosis of the idiopathic generalised epilepsies. J Neurol Neurosurg Psychiatry 2004;75:75–9
Crespel A, Genton P, BerramdaneM, et al. Lamotrigine associatedwith exacerbation or de novo myoclonus in idiopathic generalized epilepsies. Neurology 2005;65:762–4.
Levisohn PM, Holland KD. Topiramate or valproate in patients with juvenile myoclonic epilepsy: a randomized open-label comparison. Epilepsy Behav 2007;10: 547–52.
Biton V, Bourgeois BFD. YTC/YTCE Study Investigatirs: topiramate in patients with juvenile myoclonic epilepsy. Arch Neurol. 2005;62(11):1705–8.
de Araujo Filho GM, Pascalicchio TF, Lin K, Sousa PS, Yacubian EM. Neuropsychiatric profiles of patients with juvenile myoclonic epilepsy treated with valproate or topiramate. Epilepsy Behav 2006;8:606–9.
Kothare SV, Valencia I, Khurana DS, Hardison H, Melvin JJ, Legido A. Efficacy and tolerability of zonisamide in juvenile myoclonic epilepsy. Epileptic Disord
NICE Guideline. The epilepsies: the diagnosis and management of the epilepsies in adults and children in primary and secondary care: pharmacological update of clinical guideline 20. London, Royal College of Physicians (UK): National Clinical Guideline Centre; 2012 www.nice.org.uk/guidance/ng217
Obeid T, Panayiotopoulos CP. Clonazepam in juvenile myoclonic epilepsy. Epilepsia 1989;30:603–606.
Brigo F, Igwe SC, Lattanzi S. Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. Cochrane Database Syst Rev. 2019;2:CD003032.
Genton P, Gelisse P, Thomas P, Dravet C. Do carbamazepine and phenytoin aggravate juvenile myoclonic epilepsy? Neurology 2000;55:1106–1109.)
Knott C, Panayiotopoulos CP. Carbamazepine in the treatment of generalised tonic clonic seizures in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry. 1994;57(4):503.
Kostov H, Larsson PG, Røste GK. Is vagus nerve stimulation a treatment option for patients with drug-resistant idiopathic generalized epilepsy? Acta Neurol Scand Suppl. 2007;187:55–8.
Kossoff EH, Henry BJ, Cervenka MC. Efficacy of dietary therapy for juvenile myoclonic epilepsy. Epilepsy Behav. 2013;26(2):162-164. doi:10.1016/j.yebeh.2012.11.007
Gelisse P, Genton P, Thomas P, Rey M, Samuelian JC, Dravet C. Clinical factors of drug resistance in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry 2001;70: 240–3.
Gomez-Ibañez A, McLachlan RS, Mirsattari SM, Diosy DC, Burneo JG. Prognostic factors in patients with refractory idiopathic generalized epilepsy. Epilepsy Res. 2017;130:69-73. doi:10.1016/j.eplepsyres.2017.01.011
Kitazawa Y, Jin K, Kakisaka Y, Fujikawa M, Tanaka F, Nakasato N. Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types. Epilepsy Res. 2018;144:20-24. doi:10.1016/j.eplepsyres.2018.04.009
Komatsubara T, Kobayashi Y, Hiraiwa A, et al. Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy. Epilepsia Open. 2022;7(2):332-343. doi:10.1002/epi4.12603
Höfler J, Unterberger I, Dobesberger J, Kuchukhidze G, Walser G, Trinka E. Seizure outcome in 175 patients with juvenile myoclonic epilepsy--a long-term observational study. Epilepsy Res. 2014;108(10):1817-1824. doi:10.1016/j.eplepsyres.2014.09.008
Martin J Brodie. Modern management of juvenile myoclonic epilepsy, Expert Review of Neurotherapeutics 2016
Chowdhury A, Brodie MJ. Pharmacological outcomes in juvenile myoclonic epilepsy: Support for sodium valproate. Epilepsy Res. 2016;119:62-66. doi:10.1016/j.eplepsyres.2015.11.012
Kasteleijn-Nolst Trenite DG, Schmitz B, Janz D, et al. Consensus on diagnosis and management of JME: from founder’s observations to current trends. Epilepsy Behav. 2013;28(Suppl 1):S87-90.
Genton P, Gelisse P. Premature death in juvenile myoclonic epilepsy. Acta Neurol Scand 2001;104:125–9.
