강훈철 Oyungerel Dambajamts 김흥동 - - 결 Table 1. Patients data MaleFemale 과 108 Age mo meansd, Past historyno. of patients PrematurityLBW 1

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1 KISEP Original Articles J Korean Epilep Soc 6(2): , 2002 중증영아형근간대성간질의임상적고찰 * Clinical Review of Severe Myoclonic Epilepsy in Infancy 강훈철 Oyungerel Dambajamts 김흥동 Hoon Chul Kang, M.D., Oyungerel Dambajamts, M.D. and Heung Dong Kim, M.D., Ph.D. 104 ABSTRACT Purpose Purpose Method Method Results Conclusion J Korean Epilep Soc , 2002 서 - Epilepsy Center, Department of Pediatrics, Inje University Sang-gye Paik Hospital, Seoul, Korea 교신저자 론 대상및방법 J Korean Epilep Soc Volume 6 December, 2002

2 강훈철 Oyungerel Dambajamts 김흥동 - - 결 Table 1. Patients data MaleFemale 과 108 Age mo meansd, Past historyno. of patients PrematurityLBW 1 Family history No. of patients % Epilepsy Febrile convulsion Total Related disease No. of patients Cytochrome IV deficiency 1 Duration of follow up mo meansd, LBWlow birth weight - Table 2. Characteristics of seizures Onset age mo. 210 meansd, First seizureno. of patients % Focal clonic Focal with secondary generalized clonic Generalized clonic Febrile Afebrile Subsequent seizure No. of patients % Atonic Myoclonic Atypical absence Complex partial Partial with 2ndary generalized Generalized tonic Generalized tonic clonic Photosensitive seizure No. of patients % Table 3. Characteristics of febrile and myoclonic seizures Febrile seizure Onset mo. 211 meansd, With first seizure No. of patients % PersistencyNo. of patients % Status epilepticus No. of patients % Myoclonic seizure Onset mo. 748 meansd, PersistencyNo. of patients % J Korean Epilep Soc Volume 6 December,

3 중증영아형근간대성간질의임상적고찰 Table 4. EEG features Initial findingno. of patients Normal 18 Subsequent abnormalities *n14 Normal 03 Abnormal 11 Onset age mo. 888 meansd, Duration from seizure onset mo. 686 meansd, Patients who could be followed from seizure onset Table 5. Interictal EEG features 106 EEG features Background abnormality n11, 100% Slow and disorganized Polymorphic delta waves Asymmetric slowings Epileptiform discharges n9, 81.8% Multifocal sharp or spikes Focal sharp or spikes Generalized paroxysmal fast activities Generalized sharp & waves Secondary generalization Localized paroxysmal fast activities Spindle shaped fast activities No. of patients % N Table 6. EEG features in video/eeg monitoring EEG features Background abnormalities n6 No. of patients % n6 Slow and disorganized Asymmetric slowings Polymorphic delta waves Epileptiform discharges n6 Focal sharp or spikes Multifocal sharp or spikes Secondary generalization Generalized sharp or polyspikes & waves GSW Generalized paroxysmal fast activities Localized paroxysmal fast activities Subclinical electrographic seizure activities Ictal discharges n6 GSW with myoclonic seizure Hz GSW with absence seizure Partial onset seizure Table 7. MRI findings MRI Initial finding n18 Normal Subsequent finding n16 Diffuse atrophy No. of patiets % Table 8. Effectiveness of antiepileptic drugs Outcome No. of patients % Intractable Ethosuximide for ABS Effective at 1 patient Zonisamide for MC Effective at 1 patient ABSatypical absence seizure, MCmyoclonic seizure J Korean Epilep Soc Volume 6 December, 2002

4 강훈철 Oyungerel Dambajamts 김흥동 고 Table 9. Effectiveness of ketogenic diet No. of patients 13 Finished 02 Stopped due to ineffectiveness 05 Ongoing 06 Duration mo. 535 meansd, Outcome seizure frequency reduction rate 5090% 06 90% % 1 for 7 mo. Table 10. Developmental status of patients Onset age of DD mo.meansd Developmental status on last evaluationno. of patients % Age on last evaluation mo. meansd Normal Borderline Mild DD Moderate DD Severe DD DDdelayed development 찰 - J Korean Epilep Soc Volume 6 December,

5 중증영아형근간대성간질의임상적고찰 J Korean Epilep Soc Volume 6 December, 2002

6 강훈철 Oyungerel Dambajamts 김흥동 중심단어 REFERENCES 1) Dravet C, Bureau M, Guerrini R, et al. Severe myoclonic epilepsy in infants. In: Roger J, Bureau M, Dravet C, et al, eds. Epileptic syndromes in infancy, chilhood and adolescence, 2nd ed. London: John Libby, 1992: ) Dalla Bernardina B, Colamaria V, Capovilla G, et al. Nosological classification of epilepsies in the first three years of life. In: Nistico G, Diperri R, Meinardi H, eds. Epilepsy: an update on research and therapy. New York: Alan R Liss, 1983: ) Viani F, Beghi E, Atza G, et al. Classification of epileptic syndroms: advantages and limitations for evaluation of childhood epileptic syndromes in clinical practice. Epilepsia 1988;29: ) Castro-Gago M, Eiris J, Fernandez-Busillo J, Escribano D, Pintos E, Monasterio L, Pena J. Severe myoclonic epilepsy associated with mitochondrial cytopathy. Childs Nerv Syst 1995;11: ) Renier WO, Renkawek K. Clinical and neuropathological findings in a case of severe myoclonic epilepsy in infancy. Epilepsia 1990;31: ) Scheffer IE, Wallace R, Mulley JC, Berkovic SF. Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain and Development 2001; 23: ) Benlounis A, Nabbout R, Feingold J, Parmeggiani A, Guerrini R, Kaminska A, Dulac O. Genetic predisposition to severe myoclonic epilepsy in infancy. Epilepsia 2001;42: ) Dulac OJ, Chiron C. Malignant epileptic encephalopathies in children. In: Bailliere T, ed. Bailliere s clinical neurology 1996; 5: ) Henry T, Leppik IE, Gumnit RJ, et al. Pregressive myoclonus epilepsy treated with zonisamide. Neurology 1988;38: ) Coppola G, Capovilla G, Montagnini A, et al. Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. Epilepsy Res 2002; 49: ) Nieto-Barrera M, Candau R, Nieto-Jimenez M, Correa A, del Portal LR. Topiramate in the treatment of severe myoclonic epilepsy in infancy. Seizure 2000;9: ) Ohki T, Watanabe K, Negoro T, Aso K, Haga Y, Kasai K, Kito M, Maeda N. Severe myoclonic epilepsy in infancy: evolution of seizures. Seizure 1997;6: ) Dravet C, Delgado-Escueta A, Avanzini G, et al. Myoclonic epilepsies of infancy, childhood, adolesence & adulthood. An international symposium in honor of Charlotte Dravet ) Takahashi Y, Shigematsu H, Fujiwara R, Yagi K, Seino M. Self-induced photogenic seizures in a child with severe myoclonic epilepsy in infancy: optical investigations and treatment. Epilepsia 1995;36: ) William Tatum IV, Pierre Genton, Michelle Bureau, Charlotte Dravet, Joseph Roger. Less common epilepsy syndromes. In: Elaine Wyllie. The treatment of epilepsy. 3rd ed. Philadelphia: Lippincott williams & Wilkins, 2001: ) Aicardi J, Levy-Gomes A. The myoclonic epilepsies of childhood. Cleve Clin J Med 1989;56: ) Gregory D. Cascino. Use of routine and video EEG, Neurologic Clinics 2001;19: ) Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295: ) Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001; 68: ) Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy, Brief communication. Neurology 2002:58. 21) Wallace SJ. Myoclonic epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine, and zonisamide. Epilepsy Res 1998;29: ) Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 1998;39: ) Cereghino JJ, Mitchell WG, Murphy J, Kriel RL, Rosenfeld WE, Trevathan E, and the North American Diastat Study Group. Treating repetitive seizures with rectal diazepam formulation: a randomized study. Neurology 1998;51: ) Fejerman, N. Ketogenic Diet: Efficacy and tolerability in childhood intractable epilepsies. Epilepsia 1997;38(7):15. 25) Vining EP, Freeman JM, Ballaban-Gil K, et al. A multicenter study of the efficacy of the ketogenic diet. Archives of Neurology 1998;55: ) Hemingway C, Freeman JM, Pillas DJ, Pyzik PL. The ketogenic diet: a 3- to 6-year follow-up of 150 children enrolled prospectively. Pediatrics 2001;108: ) Freeman JM, Vining EPG, Pillas DJ, Pyzik PL, Casey JC, Kelly MT. The efficacy of the ketogenic diet-1998: a prospective evaluation of intervention in 150 children. Pediatrics 1998;102: ) Gold DR, Cohen BH. Treatment of mitochondrial cytopathies. Neurol 2001;21: J Korean Epilep Soc Volume 6 December,

1. 발작간간질형방전 (Interictal epileptiform discharges) 2. 주기성일측성간질형방전 (Periodic lateralized epileptiform discharges) Interictal epileptiform discharge IEDs

1. 발작간간질형방전 (Interictal epileptiform discharges) 2. 주기성일측성간질형방전 (Periodic lateralized epileptiform discharges) Interictal epileptiform discharge IEDs KISEP Reviews 생물정신의학 Vol. 8, No. 2, December 2001 간질의평가와진단 - 발작간뇌파소견을중심으로 - 박건우 * Interictal EEG in Diagnosis and Assessment of Epilepsy Kun-Woo Park, M.D., Ph.D. * ABSTRACT T KEY WORDS 뇌파검사의유용성 Department