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First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

Kim KH, Song JS, Park CW, Ki CS, Heo K

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin...
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CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy

Lee HG, Yoon BA, Kim YO, Kim MK, Woo YJ

Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset...
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Successful Treatment with Olanzapine of Psychosis in Dentatorubral-pallidoluysian Atrophy: A Case Report

Narita Z, Sumiyoshi

Patients with dentatorubral-pallidoluysian atrophy occasionally elicit psychosis. So far, one study reported first generation antipsychotics drugs may provide an effective treatment; however, there is no literature on the benefits of...
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Progressive Myoclonus Epilepsy Associated with Macular Cherry-Red Spots

Kang KS, Yun CH, Lee SK

  • KMID: 2343046
  • J Korean Neurol Assoc.
  • 2003 Apr;21(2):204-206.
Myoclonus, generalized epilepsy, and progressive neurological decline characterize progressive myoclonus epilepsy. A 25-year-old woman was admitted for the evaluation of seizure, progressive myoclonus and ataxic gait. Her symptoms had developed...
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A Case of Dentatorubropallidoluysian Atrophy with Progressive Myoclonus Epilepsy

Joung JH, Bae SJ, Jeong DS, Bae WK, Ahn MY, Park HK

  • KMID: 2186036
  • J Korean Neurol Assoc.
  • 2001 Mar;19(2):173-175.
The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy...
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Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3

Heo K, Ye JS, Kim SJ, Kim SE, Kim OK, Cho HK, Kim CH, Kim HJ

  • KMID: 1812902
  • J Korean Neurol Assoc.
  • 1999 May;17(3):420-426.
Gaucher's disease is an autosomal recessive disorder caused by a deficiency of beta-glucosidase (glucocerebrosidase) which results in an accumulation of glucocerebroside in various organs and tissues. Type 3 (juvenile or...
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A Case of Myoclonus Epilepsy and Ragged-red Fiber Syndrome

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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Two Cases of Lafora's Disease

Lee SH, Lee H, Yi SD, Lim JG, Lee DK, Park YC

  • KMID: 2065980
  • J Korean Neurol Assoc.
  • 1995 Mar;13(1):96-103.
Lafora's disease is one of the major causes of progressive myoclonic epilepsy. The main clinical manifestrations are epilepsy, both generalized and focal, severe and progressive myoclonus, progressive dementia and cerebellar...
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Two Cases of Unverricht-Lundborg Disease

Lee SK, Han SH, Rho JK, Lee SB, Myung HJ

  • KMID: 2184396
  • J Korean Neurol Assoc.
  • 1989 Jun;7(1):157-164.
Unverricht-Lundborg disease(Baltic myoclonus) is one of the major causes of progressive myoclonus epilepsy. It is characterized by stimulus sensitive myoclonic seizure, generaized tonic-clonic seizure, generally synchronous polyspike and wave discharges...
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