References
- Hauser WA. The prevalence and incidence of convulsive disorders in children. Epilepsia. 1994;35(Suppl 2):S1–S6.
- Herpin TH. Des acces incomplets d’epilepsie. Paris: Bailliere; 1867.
- Janz D, Christian W. Impulsive petit mal. Translation by Pierre Genton from the original paper ‘impulsiv-petit mal’ (Janz D & Christian W (Dtsch Z Nervenheilk 1957;176:346–386). In: Malafosse A, Genton P, Hirsch E, et al., editors. Idiopathic generalized epilepsies: clinical, experimental and genetic aspects. London: John Libbey; 1994. p. 229–251.
- Lund M, Reintoft H, Simonsen N. En kontrolleret social og psykologisk undersøgelse at patienter med juvenil myoklon epilepsi [A controlled social and psychological investigation of patients with juvenile myoclonic epilepsy]. Ugeskr Laeger. 1975;137(41):2415–2418.
- Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia. 2017;58(4):512–521.
- Syvertsen M, Hellum MK, Hansen G, et al. Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway. Epilepsia. 2017;58(1):105–112.
- Hauser WA, Annegers JF, Kurland LT. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984. Epilepsia. 1993;34(3):453–468.
- Annesi F, Gambardella A, Michelucci R, et al. Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. Epilepsia. 2007;48(9):1686–1690.
- Canevini MP, Mai R, Di Marco C, et al. Juvenile myoclonic epilepsy of Janz: clinical observations in 60 patients. Seizure. 1992;1(4):291–298.
- Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, et al., Consensus on diagnosis and management of JME: from founder’s observations to current trends. Epilepsy Behav. 28(1): S87–S90. 2013.
- Grünewald RA. Atlas of Epilepsies. In: Panayiotopoulos CP, editor. Chapter 152, juvenile myoclonic epilepsy. London: Springer; 2010. p. 1325–1329.
- Gasparini S, Ferlazzo E, Cianci V, et al. Rapidly fatal late-onset status epilepticus due to occult bi-frontal cortical dysplasia. A case report. J Neurol Sci. 2015;358:492–495.
- Gasparini S, Ferlazzo E, Leonardi CG, et al. The natural history of epilepsy in 163 untreated patients: looking for “oligoepilepsy”. PLoS One. 2016;11(9):e0161722.
- Ferlazzo E, Zifkin BG, Andermann E, et al. Cortical triggers in generalized reflex seizures and epilepsies. Brain. 2005;128(4):700–710.
- Guerrini R, Genton P. Epileptic syndromes and visually induced seizures. Epilepsia. 2004;45(Suppl 1):14–18.
- Gelisse P, Genton P, Thomas P, et al., Clinical factors of drug resistance in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry. 70(2): 240–243. 2001.
- Syvertsen M, Selmer K, Enger U, et al. Psychosocial complications in juvenile myoclonic epilepsy. Epilepsy Behav. 2019;90:122–128.
- De Araujo Filho GM, Yacubian EM. Juvenile myoclonic epilepsy: psychiatric comorbidity and impact on outcome. Epilepsy Behav. 2013;28(Suppl 1):S74–S80.
- Stevelink R, Koeleman BPC, Sander JW, et al. Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors. Eur J Neurol. 2019;26(6):856–864.
- Picot MC, Baldy-Moulinier M, Daurès JP, et al. The prevalence of epilepsy and pharmacoresistant epilepsy in adults: a population-based study in a western European country. Epilepsia. 2008;49(7):1230–1238.
- Chen Z, Brodie MJ, Liew D, et al. Treatment outcomes in patients with newly diagnosed epilepsy treated with established and new antiepileptic drugs: a 30-year longitudinal cohort study. JAMA Neurol. 2018;75(3):279–286.
- Martins Da Silva A, Leal B. Photosensitivity and epilepsy: current concepts and perspectives-A narrative review. Seizure. 2017;50:209–218.
- Larch J, Unterberger I, Bauer G, et al. Myoclonic status epilepticus in juvenile myoclonic epilepsy. Epileptic Disord. 2009;11(4):309–314.
- Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol. 2005;4(4):239–248.
- Trinka E, Kienpointner G, Unterberger I, et al., Psychiatric comorbidity in juvenile myoclonic epilepsy. Epilepsia. 47(12): 2086–2091. 2006.
- Janz D, Durner M. Juvenile myoclonic epilepsy. In: Engel J, Pedley TA, editors. Epilepsy: a comprehensive text-book. Philadelphia: Lippincott- Raven; 1997. p. 2389–2399.
- Gélisse P, Genton P, Samuelian JC, et al. Troubles psychiatriques dans l’épilepsie myoclonique juvénile [Psychiatric disorders in juvenile myoclonic epilepsy]. Rev Neurol. 2001;157(3):297–302.
- Perini GI, Tosin C, Carraro C, et al. Interictal mood and personality disorders in temporal lobe epilepsy and juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry. 1996;61(6):601–605.
- Giuliano L, Mainieri G, Aguglia U, et al. Long-term prognosis of juvenile myoclonic epilepsy: a systematic review searching for sex differences. Seizure. 2021;86:41–48.
- Geithner J, Schneider F, Wang Z, et al. Predictors for long-term seizure outcome in juvenile myoclonic epilepsy: 25-63 years of follow-up. Epilepsia. 2012;53(8):1379–1386.
- Shahnaz, Sher K, Abdul Sattar R. Clinical and EEG characteristics of juvenile myoclonic epilepsy. Pak J Med Sci. 2014;30(1):12–15.
- Labate A, Ambrosio R, Gambardella A, et al. Usefulness of a morning routine EEG recording in patients with juvenile myoclonic epilepsy. Epilepsy Res. 2007;77(1):17–21.
- Seneviratne U, Cook M, D’Souza W. The prognosis of idiopathic generalized epilepsy. Epilepsia. 2012;53(12):2079–2090.
- Seneviratne U, Cook M, D’Souza W. Focal abnormalities in idiopathic generalized epilepsy: a critical review of the literature. Epilepsia. 2014;55(8):1157–1169.
- Matsuoka H. The seizure prognosis of juvenile myoclonic epilepsy. Jpn J Psychiatry Neurol. 1992;46(2):293–296.
- Japaridze G, Kasradze S, Lomidze G, et al. Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. Clin Neurophysiol. 2016;127(2):1182–1187.
- Baykan B, Wolf P. Juvenile myoclonic epilepsy as a spectrum disorder: a focused review. Seizure. 2017;49:36–41.
- Sun Y, Seneviratne U, Perucca P, et al. Generalized polyspike train: an EEG biomarker of drug-resistant idiopathic generalized epilepsy. Neurology. 2018;91(19):e1822–e1830.
- So N, Berkovic S, Andermann F, et al. Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies. Brain. 1989;112(5):1261–1276.
- Kälviäinen R. Progressive myoclonus epilepsies. Semin Neurol. 2015;35(3):293–299.
- Ferlazzo E, Magaudda A, Striano P, et al. Long-term evolution of EEG in unverricht-lundborg disease. Epilepsy Res. 2007;73(3):219–227.
- Turnbull J, Tiberia E, Striano P, et al. Lafora disease. Epileptic Disord. 2016;18(S2):38–62.
- Ferlazzo E, Canafoglia L, Michelucci R, et al. Mild Lafora disease: clinical, neurophysiologic, and genetic findings. Epilepsia. 2014;55(12):e129–e133.
- Vanhanen SL, Sainio K, Lappi M, et al. EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis. Dev Med Child Neurol. 1997;39(7):456–463.
- Koepp MJ, Woermann F, Savic I, et al. Juvenile myoclonic epilepsy-neuroimaging findings. Epilepsy Behav. 2013;28(Suppl 1):S40–4.
- Kim JH, Suh SI, Park SY, et al. Microstructural white matter abnormality and frontal cognitive dysfunctions in juvenile myoclonic epilepsy. Epilepsia. 2012;53(8):1371–1378.
- Vulliemoz S, Vollmar C, Koepp MJ, et al. Connectivity of the supplementary motor area in juvenile myoclonic epilepsy and frontal lobe epilepsy. Epilepsia. 2011;52(3):507–514.
- Anderson J, Hamandi K. Understanding juvenile myoclonic epilepsy: contributions from neuroimaging. Epilepsy Res. 2011;94(3):127–137.
- Parsons N, Bowden SC, Vogrin S, et al. Default mode network dysfunction in idiopathic generalised epilepsy. Epilepsy Res. 2020;159:106254.
- Gilsoul M, Grisar T, Delgado-Escueta AV, et al. Subtle brain developmental abnormalities in the pathogenesis of juvenile myoclonic epilepsy. Front Cell Neurosci. 2019;13:433.
- Jayalakshmi SS, Mohandas S, Sailaja S, et al. Clinical and electroencephalographic study of first-degree relatives and probands with juvenile myoclonic epilepsy. Seizure. 2006;15(3):177–183.
- Striano P, Nobile C. The genetic basis of juvenile myoclonic epilepsy. Lancet Neurol. 2018;17(6):493–495.
- Lerche H, Berkovic SF, Lowenstein DH. EuroEPINOMICS-CoGIE consortium; EpiPGX consortium; Epi4K consortium/epilepsy phenome/genome project. Intestinal-cell kinase and juvenile myoclonic epilepsy. N Engl J Med. 2019;380:e24.
- Delgado-Escueta AV, Koeleman BP, Bailey JN, et al. The quest for juvenile myoclonic epilepsy genes. Epilepsy Behav. 2013;28(Suppl 1):S52–S57.
- Santos BPD, Marinho CRM, Marques TEBS, et al. Genetic susceptibility in juvenile myoclonic epilepsy: systematic review of genetic association studies. PLoS One. 2017;12(6):e0179629.
- Mumoli L, Tarantino P, Michelucci R, et al. No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. Epilepsia. 2015;56(4):e40–e43.
- Wolking S, Schulz H, Nies AT, et al. Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. Pharmacogenomics. 2020;21(5):325–335.
- Penry JK, Dean JC, Riela AR. Juvenile myoclonic epilepsy: long-term response to therapy. Epilepsia. 1989;30(Suppl 4):S19–S27.
- Ornoy A. Valproic acid in pregnancy: how much are we endangering the embryo and fetus? Reprod Toxicol. 2009;28(1):1–10.
- Mostacci B, Ranzato F, Giuliano L, et al. Alternatives to valproate in girls and women of childbearing potential with Idiopathic Generalized Epilepsies: state of the art and guidance for the clinician proposed by the Epilepsy and Gender Commission of the Italian League Against Epilepsy (LICE). Seizure. 2021;85:26–38.
- Montouris G, Abou-Khalil B. The first line of therapy in a girl with juvenile myoclonic epilepsy: should it be valproate or a new agent? Epilepsia. 2009;50(8):16–20.
- Genton P, Gelisse P, Thomas P, et al. Do carbamazepine and phenytoin aggravate juvenile myoclonic epilepsy? Neurology. 2000;55(8):1106–1109.
- Thomas P, Valton L, Genton P. Absence and myoclonic status epilepticus precipitated by antiepileptic drugs in idiopathic generalized epilepsy. Brain. 2006;129(5):1281–1292.
- Perucca E, Gram L, Avanzini G, Perucca E, Gram L, Avanzini G, et al. Antiepileptic drugs as a cause of worsening seizures. Epilepsia. 1998;39(1):5–17.
- Brodie MJ. Modern management of juvenile myoclonic epilepsy. Expert Rev Neurother. 2016;16(6):681–688.
- 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):1016–1026.
- Bourgeois B, Beaumanoir A, Blajev B, et al. Monotherapy with valproate in primary generalized epilepsies. Epilepsia. 1987;28(Suppl 2):S8–S11.
- Tomson T, Battino D, Perucca E. Valproic acid after five decades of use in epilepsy: time to reconsider the indications of a time-honoured drug. Lancet Neurol. 2016 Feb;15(2):210–218.
- Berkovic SF, Knowlton RC, Leroy RF, et al. Levetiracetam N01057 Study Group. Placebo-controlled study of levetiracetam in idiopathic generalized epilepsy. Neurology. 2007;69(18):1751–1760.
- Sala-Padró J, Toledo M, Santamarina E, et al. Levetiracetam and Valproate Retention Rate in Juvenile Myoclonic Epilepsy. Clin Neuropharmacol. 2016;39(6):299–301.
- Noachtar S, Andermann E, Meyvisch P, et al. Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures. Neurology. 2008;70(8):607–616.
- Sharpe DV, Patel AD, Abou-Khalil B, et al. Levetiracetam monotherapy in juvenile myoclonic epilepsy. Seizure. 2008;17(1):64–68.
- Specchio N, Boero G, Michelucci R, et al. Effects of levetiracetam on EEG abnormalities in juvenile myoclonic epilepsy. Epilepsia. 2008;49(4):663–669.
- Milano C, Turco F, Pizzanelli C, et al. Response to levetiracetam or lamotrigine in subjects with Juvenile Myoclonic Epilepsy previously treated with valproic acid: a single center retrospective study. Epilepsy Behav. 2021;115:107706.
- Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia. 1998;39(5):508–512.
- Nicolson A, Marson AG. When the first antiepileptic drug fails in a patient with juvenile myoclonic epilepsy. Pract Neurol. 2010;10(4):208–218.
- Błaszczyk B, Miziak B, Czuczwar P, et al. A viewpoint on rational and irrational fixed-drug combinations. Expert Rev Clin Pharmacol. 2018;11(8):761–771.
- Faught E, Morris G, Jacobson M, et al. Adding lamotrigine to valproate: incidence of rash and other adverse effects. Postmarketing Antiepileptic Drug Survey (PADS) group. Epilepsia. 1999;40(8):1135–1140.
- Obeid T, Panayiotopoulos CP. Clonazepam in juvenile myoclonic epilepsy. Epilepsia. 1989;30(5):603–606.
- Panayiotopoulos CP, Obeid T, Tahan AR. Juvenile myoclonic epilepsy: a 5-year prospective study. Epilepsia. 1994;35(2):285–296.
- Biton V. YTC/YTCE Study Investigators. Topiramate in patients with juvenile myoclonic epilepsy. Arch Neurol. 2005;62(11):1705–1708.
- Liu J, Wang LN, Wang YP. Topiramate monotherapy for juvenile myoclonic epilepsy. Cochrane Database Syst Rev. 2017;4:CD010008.
- Biton V, Sackellares JC, Vuong A, et al. Double-blind, placebo-controlled study of lamotrigine in primary generalized tonic-clonic seizures. Neurology. 2005;65(11):1737–1743.
- Sousa Pda S, Araújo Filho GM, Garzon E, et al. Topiramate for the treatment of juvenile myoclonic epilepsy. Arq Neuropsiquiatr. 2005;63(3b):733–737.
- Kothare SV, Valencia I, Khurana DS, et al. Efficacy and tolerability of zonisamide in juvenile myoclonic epilepsy. Epileptic Disord. 2004;6(4):267–270.
- O’Rourke D, Flynn C, White M, et al. Potential efficacy of zonisamide in refractory juvenile myoclonic epilepsy: retrospective evidence from an Irish compassionate-use case series. Ir Med J. 2007;100(4):431–433.
- Marinas A, Villaneuva V, Giraldez BG. Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy. Epileptic Disord. 2009;11(1):61–66.
- Villanueva V, Montoya J, Castillo A, et al. Perampanel in routine clinical use in idiopathic generalized epilepsy: the 12-month GENERAL study. Epilepsia. 2018;59(9):1740–1752.
- Fonseca E, Guzmán L, Quintana M, et al. Efficacy, retention, and safety of brivaracetam in adult patients with genetic generalized epilepsy. Epilepsy Behav. 2020;102:106657.
- Mantoan L, Walker M. Treatment options in juvenile myoclonic epilepsy. Curr Treat Options Neurol. 2011;13(4):355–370.
- Resor SR Jr, Resor LD. Chronic acetazolamide monotherapy in the treatment of juvenile myoclonic epilepsy. Neurology. 1990;40(11):1677–1681.
- Brigo F, Igwe SC. Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. Cochrane Database Syst Rev. 2017;2:CD003032.
- Montalenti E, Imperiale D, Rovera A, et al. Clinical features, EEG findings and diagnostic pitfalls in juvenile myoclonic epilepsy: a series of 63 patients. J Neurol Sci. 2001;184(1):65–70.
- Ferlazzo E, Aguglia U. Energy drinks and seizures: what is the link? Epilepsy Behav. 2012;24(1):151.
- French JA, Krauss GL, Wechsler RT, et al. Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy. A randomized trial. Neurology. 2015;85(11):950–957.
- Shakeshaft A, Panjwani N, McDowall R, et al. Trait impulsivity in Juvenile Myoclonic Epilepsy. Ann Clin Transl Neurol. 2021;8(1):138–152.
- Biraben A, Allain H, Scarabin JM, et al. Exacerbation of juvenile myoclonic epilepsy with lamotrigine. Neurology. 2000;55(11):1758.
- Crespel A, Genton P, Berramdane M, et al. Lamotrigine associated with exacerbation or de novo myoclonus in idiopathic generalized epilepsies. Neurology. 2005;65(5):762–764.
- Silvennoinen K, De Lange N, Zagaglia S, et al. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia Open. 2019;4(3):420–430.
- Steinhoff BJ, Klein P, Klitgaard H, et al. Behavioral adverse events with brivaracetam, levetiracetam, perampanel, and topiramate: a systematic review. Epilepsy Behav. 2021;118:107939.