- A Case of True Myoclonic Epilepsy of Childhood
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Moon JS, Lee BI, Kim GW, Kim YJ, Jung JS
- KMID: 2016106
- J Korean Neurol Assoc.
- 1991 Jun;9(2):253-357.
The myoclonic epilepsies of infancy and early childhood pose the most difficult problems in the diagnosis and classification of epilepsies because they are often confused with the Lennox-Gastaut syndrome sharing... -
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- A case of Myoclonic Encephalopathy associated with Neuroblastoma
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Yang JS, Coe CJ, Mun HG, Park CI
- KMID: 1676327
- J Korean Pediatr Soc.
- 1985 Sep;28(9):926-930.
No abstract available. -
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- A Case of Severe Myoclonic Epilepsy in Infancy
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Koh YJ, Seol IJ
- KMID: 2329216
- J Korean Child Neurol Soc.
- 1997 Oct;5(1):133-137.
Severe myoclonic epilepsy of infancy(SMEI) is a condition beginning with recurrent, prolonged febrile convulsion in normal children, followed within months to 4 years by generalized tonic clonic seizures, partial seizures,... -
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- An Atypical Case of Aicardi Syndrome with Favorable Outcome
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Lee SW, Kim KS, Cho SM, Lee SJ
- KMID: 1115788
- Korean J Ophthalmol.
- 2004 Jun;18(1):79-83.
- doi: 10.3341/kjo.2004.18.1.79
Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye... -
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- A Case of Myoclonus Epilepsy and Ragged-red Fiber Syndrome
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Kim BG, Jeon BS
- KMID: 2342534
- J Korean Neurol Assoc.
- 1996 Jun;14(2):595-600.
Myoclonus epilepsy and ragged-red fiber (MERRF) syndrome is one of the common etiologies of progressive myoclonus epilepsy. The clinical features of MERRF syndrome are myoclonus, seizure, dementia, ataxia, neuropathy, myopathy,... -
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- Seizure Types and EEG Findings of Juvenile Onset Idiopathic Generalized Epilepsy
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Kim H, Kim JS, Kim WS, Cho K, Kim KJ, Hwang YS
- KMID: 2335258
- J Korean Pediatr Soc.
- 1997 Jul;40(7):991-998.
PURPOSE: Juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy wth generalized tonic clonic seizure (GTCS) on awakening are the three syndromes of idiopathic generalized epilepsy of adolescent onset currently included... -
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- Clinical and Electrographic Characteristics of Intractable Childhood Epilepsy with Complete Seizure Remission Over 6 Months After Ketogenic Diet
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Kim YR, Kim HD
- KMID: 2329230
- J Korean Child Neurol Soc.
- 2000 Dec;8(2):242-249.
PURPOSE: The efficacy of ketogenic diet in intractable childhood epilepsy has been reported in Korea. The aim of this retrospective study is to elicit the clinical and electrophysiological characteristics of intractable chilhood... -
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- Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures
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Rim JH, Baik M, Yoon SO, Heo K, Song J
- KMID: 2373520
- Ann Lab Med.
- 2016 Mar;36(2):177-179.
- doi: 10.3343/alm.2016.36.2.177
No abstract available. -
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- Clinical Review of Severe Myoclonic Epilepsy in Infancy
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Kang HC, Dambajamts O, Kim HD
- KMID: 2333390
- J Korean Epilepsy Soc.
- 2002 Dec;6(2):104-109.
PURPOSE: Severe myoclonic epilepsy in infancy (SMEI) seems to be more common than realized, because it is often overlooked. In addition, the prognosis is poor despite of recent advances of... -
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- Occult Mediastinal Ganglioneuroblastoma Presenting with Myoclonic Encephalopathy as Paraneoplastic Syndrome
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Lee H, Han DK, Oh JW, Seol IJ, Hong EK, Jeon SC
- KMID: 2208525
- J Korean Pediatr Soc.
- 1994 May;37(5):695-700.
Ganglioneruroblastoma and neuroblastoma are among commonest types of childhood malignancy and a number of unique paraneoplastic syndromes have associated with both localized and disseminated neuroblastoma. The coincidence of neuroblastoma and... -
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- Acute Tubular Necrosis associated with the Ketogenic Diet in a Child with Intractable Epilepsy
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Yoo KH, Yim HE
- KMID: 2448162
- Child Kidney Dis.
- 2019 Apr;23(1):48-52.
- doi: 10.3339/jkspn.2019.23.1.48
The ketogenic diet (KD) has been used as an effective antiepileptic therapy for intractable childhood epilepsy. However, various adverse effects have been reported with use of the KD. We report... -
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- Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2003)
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Cho HC, Kim SH, Park SS, Lee SG, Han SH, Na EK, Kim JS, Lee JE, Kim EC, Park SJ, Park JW, Seo SP, Song KS, Lee YK, Chi HS
- KMID: 1895338
- J Lab Med Qual Assur.
- 2004 Jun;26(1):147-170.
The importance of quality control for dramatically growing genetic tests continues to be emphasized with increasing clinical demands. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in... -
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- Mutations of SCN1A in Familial Febrile Seizures
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Kang JM, Roh SM, Kim YH, Chung SY, Lee IG, Whang KT
- KMID: 2329290
- J Korean Child Neurol Soc.
- 2003 May;11(1):47-54.
PURPOSE: Febrile seizures affect 2-5% of all children younger than 6 years old. A small proportion of children with febrile seizures later develop epilepsy. Muations in the voltage-gated sodium channel... -
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- A Case of Insulin Dependent Diabetes Mellitus with MELAS Syndrome Associated with a Mutation of Mitochondrial DNA
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Choi MH, Rhim HM, Oh KW, Kang MI, Cha BY, Lee KW, Son HY, Kang SK, Lee HC, Huh KB
- KMID: 2331726
- J Korean Diabetes Assoc.
- 1999 Apr;23(2):207-214.
Mitochondrial mutations are associated with a wide range of disorders (Kearns-Sayre and chronic progressive external ophthalmoplegia syndromes, Myoclonic epilepsy and ragged-red fibre disease, Mitoehondrial encephalomyopathy, lactic acidosis, and stroke-like episodes,... -
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- Hyperglycemic Hyperosmolar Syndrome Caused by Steroid Therapy in a Patient with Lupus Nephritis
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Kang SH, Lee JY, Park HS, Sun IO, Choi SR, Chung BH, Choi BS, Yang CW, Kim YS, Park CW
- KMID: 2157886
- J Korean Med Sci.
- 2011 Mar;26(3):447-449.
- doi: 10.3346/jkms.2011.26.3.447
A 51-yr-old female was referred to our outpatient clinic for the evaluation of generalized edema. She had been diagnosed with idiopathic thrombocytopenic purpura (ITP). She had taken no medicine. Except... -
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- A Case Report of MELAS Syndrome
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Lee TY, Hong DK, Lim SR, Heo K, Cho HK
- KMID: 2138123
- J Korean Neurol Assoc.
- 1993 Jun;11(2):254-260.
Mitochondnal encephalomyopathies are multisysternic diseases affecting predominantly the CNS and skeletal muscLes by mitochondrial dysfunction. Mitochondrial diseases include three distinct syndromes: mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS):... -
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- Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber (MERRF) Syndrome
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Ko TS, Lee SA, Choe G, Yoo HW
- KMID: 1561831
- J Korean Pediatr Soc.
- 1998 Jul;41(7):941-952.
PURPOSE: Myoclonic epilepsy with ragged red fiber (MERRF) syndrome is a disease of the mitochondrial encephalomyopathies, characterized by progressive myoclonus (action), epilepsy, cerebellar ataxia, intention tremor, muscle weakness, progressive dementia,... -
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- Single Nucleotide Polymorphisms of SCN1A-exon 9 in GEFS+
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Roh SM, Eom TH, Kim J, Kim YH, Chung SY, Lee IG, Whang KT, Lee KH
- KMID: 1582206
- J Korean Child Neurol Soc.
- 2004 May;12(1):21-28.
PURPOSE: Febrile seizures affect 2-5% of all children younger than 6 years old. A small proportion of children with febrile seizures later develop epilepsy. Muations in the voltage-gated sodium channel... -
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- Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2008)
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Kim SH, Ki CS, Jeon BR, Lee ST, Yoo EH, Kim JW, Park SS, Kim JS, Lee YK, Kong SY, Ki SJ, Han SH, Seo EJ
- KMID: 2200582
- J Lab Med Qual Assur.
- 2009 Jun;31(1):161-181.
The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic... -
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- Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)
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Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW
- KMID: 2437188
- J Lab Med Qual Assur.
- 2018 Dec;40(4):199-210.
- doi: 10.15263/jlmqa.2018.40.4.199
Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance... -
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