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A Case of Joubert Syndrome

Choi HW, Chun KU, Kim HM, Ho B

  • KMID: 1582229
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):105-110.
Joubert syndrome is a rare autosomal recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, ataxia, abnormal eye movements, and a respiratory pattern of alternating tachypnea and...
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A Case of Dopa-Responsive Dystonia, Segawa Disease

Kang HC, Lee HS, Kim HD

  • KMID: 1582228
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):99-104.
Segawa disease, hereditary progressive dystonia with marked diurnal fluctuations or defined dopa-responsive dystonia has age-dependent clinical courses, which are characterized with marked progression in the first one and half...
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A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency

Han YS, Kang HC, Lee HJ, Kim HD

  • KMID: 1582226
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):92-98.
3-Methylcrotonyl-CoA carboxylase(MCC) is a biotin-dependent enzyme involved in the leucine metabolism. We describe a patient with MCC deficiency who manifested with Reye syndrome-like illness with status epilepticus, metabolic acidosis,...
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The Study for Causes of Childhood Language Disorders

Yew JH, Kim YD, Lee KS

  • KMID: 1582221
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):85-91.
PURPOSE: Language disorders are characterized by inadequate acquisition of language comprehension or expression. Language disorder involve the exclusion of etiologic or explanatory factors, such as sttutering, delayed speech and phonological...
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Neurologic Outcomes of Periventricular Leukomalacia

Nam IH, Mo EH, Lee KS

  • KMID: 1582219
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):78-84.
PURPOSE: Periventricular leukomalacia(PVL) is the most important cause of cerebral palsy in premature infants. However, there are relatively few studies demonstrating the correlation between ultrasound findings and neurologic outcomes of...
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Prognostic Factors and Treatment Strategies for Acute Viral Encephalitis

Lee SY, Jang YS, Kim SJ

  • KMID: 1582217
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):66-77.
PURPOSE: Encephalitis is a cranial nervous system infection that is caused by various etiologies. Most of the patients with encephalitis undergo severe or fatal clinical course with sequelae. This study...
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beta2 Microglobulin Levels of Cerebrospinal Fluid in Children with Meningeal Irritation Signs

Kim YD, Yoo JH, Lim HH, Lee KS

  • KMID: 1582216
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):59-65.
PURPOSE: A clinical diagnosis of meningitis is difficult because of the paucity of physical findings in children. Not all of the meningitis patients show nuchal rigidity, Kernig's sign or Brudzinski's...
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Molecular Genetic Analysis of Dystrophin Gene in Duchenne/Becker Muscular Dystrophy

Park SY, Koh KN, Lim BC, Kang HS, Lee KY, Hwang H, Chae JH, Choi JE, Kim KJ, Hwang YS

  • KMID: 1582214
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):50-58.
PURPOSE: Duchenne/Becker muscular dystrophy(DMD/BMD) is an X-linked recessive disorder caused by mutations of dystrophin genes. The purpose of the present study is to determine the frequency and the patterns of...
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Large Scale Single Deletion of Mitochondrial DNA in Chronic Progressive External Ophthalmoplegia

Koh KN, Park SY, Hwang H, Chae JH, Choi JE, Kim KJ, Hwang YS

  • KMID: 1582211
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):43-49.
PURPOSE: Chronic progressive external ophtahlmoplegia(CPEO) is a common phenotype of mitochondrial myopathy. CPEO has wide clinical spectrum with variable severity and can be divided into 3 groups; Kearns-Sayre syndrome, ophthalmoplegia...
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Unprovoked Seizures in Children with Febrile Seizures

Choi BJ, Whang KT

  • KMID: 1582210
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):36-42.
PURPOSE: The greatest concern for children with febrile seizures is not only the possibility of epilepsy, but also unprovoked seizures. The present study examined the risk and predictors of unprovoked...
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Neuron-Specific Enolase Levels of Serum and Cerebrospinal Fluid in Children with Febrile Seizure

Park JK, Hwang TG

  • KMID: 1582209
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):29-35.
PURPOSE: Neuron-specific enolase(NSE) has been established as a reliable marker of neuronal damage in various neurologic disorders. The aim of this study was to evaluate whether febrile seizure cause brain...
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Single Nucleotide Polymorphisms of SCN1A-exon 9 in GEFS+

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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Ketogenic Diet in Childhood Intractable Epilepsy

Koh KN, Park SY, Lim BC, Kang HS, Lee KY, Hwang H, Chae JH, Choi JE, Kim KJ, Hwang YS

  • KMID: 1582204
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):12-20.
PURPOSE: Ketogenic diet(KD) is an alternative treatment for children with intractable seizures. This study was performed to evaluate the efficacy and tolerability of ketogenic diet METHODS: A retrospective study was performed...
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Rasmussen Syndrome

Kim SJ, Park YD

  • KMID: 1582203
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):1-11.
No abstract available.
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