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A Novel SLC25A15 Mmutation Causing Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Jang KM, Hyun MC, Hwang SK

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) is a neurometabolic disorder with highly variable clinical severity ranging from mild learning disability to severe encephalopathy. Diagnosis of HHH syndrome can easily be delayed or...
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A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Report

Hur MW, Ko A, Lee HJ, Lee JS, Kang HC

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the...
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A Novel c.826G>A Mutation in a Boy with Allan-Herndon-Dudley Syndrome: Clinical Significance of Thyroid Function Tests in Developmental Delay of Unknown Origin

Shin EK, Park BH, Moon JH, Kim JH, Yoo HW, Kim GH

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability caused by monocarboxylate transporter 8 (MCT8) deficiency. AHDS manifests in global developmental delay, axial hypotonia, quadriplegia, movement disorders in male patients, and...
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A Child with Guillain-Barré Syndrome Presenting Paralytic Ileus

Lee SH, Lee KH

Guillain-Barré syndrome (GBS) is characterized by ascending symmetric paralysis, paresthesia, and autonomic dysfunction. Autonomic dysfunctions develop in two-thirds of the patients, and urinary retention and paralytic ileus usually develop in...
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Idiopathic Cervicosyringomyelia in 2 year-old Boy

Cho YH, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Choi JE, Shin SM

Syringomyelia is a disorder in which a cavity has formed within the spinal cord. Idiopathic syringomyelia is not associated with identifiable causes such as Chari type 1 malformation, spinal cord...
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Acute Cerebellitis Causing Life-threatening Brain Stem Compression and Acute Hydrocephalus: A Fatal Case Report

Seol JH, Park J, Lee KY

Acute cerebellitis is a rare inflammatory disorder that occurs most frequently in children. The typical clinical course of acute cerebellitis is benign. However, in some cases of acute cerebellitis, fulminant...
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Norovirus Associated Cerebellitis in a Previous Healthy 2-year-old Girl

Chung LY, Lee KC, Kim GH, Eun SH, Eun BL, Byeon JH

Norovirus causes acute gastroenteritis, occasional afebrile seizures, and rarely encephalitis. We describe a child with cerebellitis due to norovirus that has not been reported previously. A previously healthy 2-year-old girl...
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Posterior Reversible Encephalopathy Syndrome Accompanied by a Cerebral Hemorrhage and Restricted Diffusion in a Child with Uncontrolled Nephrotic Syndrome

Jung SM, Choi SE, Kim HJ, Ahn YH, Lee KH

Posterior reversible encephalopathy syndrome (PRES) is a rare clinico-radiological syndrome that is characterized by an acute onset of headache, vomiting, visual abnormalities, confusion, and/or seizures and is typically accompanied with...
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Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation

Jee N, Ko A, Kim SH, Lee JS, Kim HD, Lee ST, Choi JR, Kang HC

Epilepsy of infancy with migrating focal seizure (MFEI) is an early-onset epileptic encephalopathy characterized by randomly migrating focal seizures and psychomotor deterioration. It is associated with mutations in a variety...
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Clinical Characteristics of Enteroviral Meningitis without Cerebrospinal Fluid Pleocytosis in Children

Kim NR, Ku JK, Lee BL

PURPOSE: The purpose of this study was to investigate the clinical features and laboratory findings of enteroviral meningitis according to the presence of cerebrospinal fluid (CSF) pleocytosis, and to investigate...
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Orthostatic Hypotension and Postural Orthostatic Tachycardia Syndrome in Children: Comparison of Clinical Features and Neurophysiology Test

Kim YK, Park JH, Choi HJ, Kim JS

PURPOSE: The clinical characteristics and neuropsychological tests of orthostatic hypotension (OH) and postural orthostatic tachycardia syndrome (POTS) in children were compared. METHODS: From August 2011 to April 2015, we enrolled patients...
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The Effectiveness of Brain MRI in Children and Adolescents with Headache

Park SW, Park HA, Kim DW

PURPOSE: In this study, the authors classified the pediatric headache patients according to the presence of associated symptoms or signs, and the duration of headache. The purpose of this study...
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Iron Supplement in Paroxysmal Non-epileptic Events in Children

Lee J, Choi J, Kwon HH, Kang JW

PURPOSE: Paroxysmal non-epileptic event (PNE) is a common seizure-like symptom in children. With regard to therapy, a decrease in iron levels was reported in breath-holding spells, but not in other...
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Seizure Aggravation Following Adjunctive Levetiracetam Therapy in Children with Epilepsy: a Single Tertiary Center Experience

Kim YM, Yoon L, Kong JH, Yeon GM, Lee Y, Nam SO

PURPOSE: The aim of this study is to evaluate the prevalence and risk factors of seizure aggravation of adjunctive levetiracetam therapy in children with epilepsy. METHODS: We retrospectively identified 125 children...
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Long-term Clinical Course and Electroencephalographic Analysis in Children with Benign Childhood Epilepsy with Centrotemporal Spikes

Lee SH, Hwang IJ, Lee HO, Choe HY, Woo YJ

PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BECTS) is one of the most common and benign focal epilepsy syndromes during childhood. In this study, we analyzed the clinical features and...
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Discontinuing Antiepileptic Drugs after Pediatric Epilepsy Surgery for Focal Cortical Dysplasia

Seo SE, Kim SH, Kim DS, Kang HC, Lee JS, Kim HD

PURPOSE: Antiepileptic drugs (AEDs) can be discontinued in a subset of patients after surgery. We aimed to identify the factors related to successful AED withdrawal after surgery in pediatric patients...
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Childhood Idiopathic Occipital Lobe Epilepsy: Clinical Characteristics and Prognostic Factors

Kwon JY, Kim GH, Eun SH, Eun BL, Byeon JH

PURPOSE: Among syndromes of idiopathic occipital lobe epilepsy there are Panayiotopoulos syndrome (PS) and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G). However, the classification of epilepsy syndrome is difficult to...
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Epileptic Spasms, a Journey to Find Therapeutics Based on Pathophysiology

Yum MS

After the first description of infantile spasms (IS) in 1841, extensive clinical and laboratory investigations have been done to find the pathophysiology and the optimal treatments. The concept of the...
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