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A Case of Menkes Disease First Manifested as Severe Vesicoureteral Reflux Caused by a Novel Mutation in ATP7A Gene

Kang SA, Jeong SW, Lee EH

Menkes disease is a rare, neurodegenerative, copper metabolism disorder characterized by mutations in ATP7A gene. Clinical symptoms include epilepsy, growth delay, reduced muscle strength, skin hyperextension, hair deformation and urologic...
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Non-EEG Seizure Detection Using Wearable Device

Noh BH

Electroencephalography (EEG) is the gold standard for seizure detection. However, EEG systems are usually expensive and require well-trained technicians for data acquisition. Detection of seizures is important in patients with...
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Clinical Manifestation and PRRT2 Analysis of Korean Patients with Paroxysmal Kinesigenic Dyskinesia

Kang SM, Lee JH, Cho KL, Lee HJ, Kim JE, Seo EJ

PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) is a rare paroxysmal movement disorder characterized by recurrent and brief dyskinesia attacks triggered by sudden voluntary movement. The diagnosis of PKD is based on...
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FOXP3 Mutation in a Patient with Proportional Microcephaly and Developmental Delay

Cho HJ, Choi GE, Kim YO, Park C, Yang EM, Kim CJ, Kim MK, Shin MG, Woo YJ

Most cases of microcephaly with growth failure and developmental delay have a genetic or metabolic etiology. Whole-exome sequencing (WES) has uncovered many causative genes and has also broadened their phenotypic...
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Prognosis in Late-Onset Febrile Seizure

Baek J, Hwang SY, Byeon JH, Eun SH, Eun BL, Kim GH

PURPOSE: There is a paucity of evidence about prognosis after a first febrile seizure in older children. We investigated the prognosis and potential risk factors associated with subsequent unprovoked seizures...
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The Efficacy of Treatment According to Electroencephalogram Findings in Children and Adolescents with Recurrent Primary Headache

Joo JY, Rho YI, Lee JH

PURPOSE: We investigated the impact of treatment on electroencephalogram (EEG) findings, and determined treatment efficacy according to EEG findings and antiepileptic drugs in children and adolescents with recurrent headaches. METHODS: We...
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Herpes Zoster with Aseptic Meningitis in Immunocompetent Children: A Case Series

Jang HJ, Yoo HW, Yoon L, Kong JH, Lee Y, Nam SO, Kim YM

Primary clinical features of rash and neurological complications due to varicella zoster virus (VZV) reactivation are rare in a healthy population, especially in immunocompetent children. Early diagnosis and prompt treatment...
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Neurologic Manifestations according to Serotypes of Enterovirus in Pediatric Inpatient in Incheon

Kim KY, Park JS, Kwon MJ, Kim KS, Kwon YS

PURPOSE: Enterovirus infection in children can manifest various disease and enterovirus have many serotypes. This study was aimed to investigate neurologic manifestations according to serotypes of enterovirus in pediatric inpatients...
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Considerations in Treating Neonatal and Infantile Patients with a Retrocerebellar Arachnoid Cyst: in the Perspective of Different CSF Dynamics

Lee S, Jin SC, Hur YJ, Kim HY

Arachnoid cysts found under the age of 1 year are more likely to grow in size, relatively short term follow-up is required. Retrocerebellar location predicts a high risk of hydrocephalus,...
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Clinical Features and Neurologic Complications of Pediatric Enteroviral Meningitis

Choi SY, Lee YS, Yu J

PURPOSE: To explore clinical features and neurologic complications of pediatric enteroviral meningitis, and to evaluate risk factors according to the presence of cerebrospinal fluid (CSF) pleocytosis and neurologic complications. METHODS: Retrospective...
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An Outbreak of Mumps Meningitis Among Adolescents

Lee HE, Chu CC, Choi EH, Kim JS

PURPOSE: We report sharp rise of incidence of mumps meningitis at our institute and describe the clinical manifestations, laboratory findings, and complications. METHODS: This is a retrospective study involving 34 patients...
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Clinical and Radiologic Features of Pediatric Cerebral Venous Thrombosis in Korea

Shim Y, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim BC

PURPOSE: Cerebral venous thrombosis (CVT) is a rare cause of pediatric stroke. Our goal was to describe the clinical CVT features among pediatric patients presenting at a tertiary referral center. METHODS:...
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Epstein-Barr Virus Infection associated Transverse Myelitis with Brain Involvement in an Immunosuppressed Patient: A Case Report

Shim Y, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim KJ

A 19-year-old girl with immunosuppressive agents of tacrolimus and mychophenolate mofetil following liver transplantation due to glycogen storage disease visited hospital due to lower extremity motor weakness and blurred vision....
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