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SARS-CoV-2 Neurotropism in a 12-Year-Old Filipino Boy with Focal Encephalitis

Castro ADP, Valencia MAAM, Padua JRO

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A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1

Shin Gj, Na JH, Lee H, Lee YM

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A Rare Case of Anti-Ma2 Antibody-Mediated Autoimmune Encephalomyelitis in Childhood

Kim H, Yum MS, Kim MJ, Ko TS

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A SERPINC1 Mutation in a Patient with Cerebral Venous Thrombosis and Upper-Extremity Deep Vein Thrombosis

Byun JC, Hong JH

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TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 in a Newborn with Refractory Myoclonic Seizures

Byun JC, Ha JS, Kim CS

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X-Linked Cerebral Creatine Deficiency Syndrome with Prolonged QT Interval: A Case Report

Kim HW, Park JK, Lee JE, Lee KS, Lee BL

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Neurological Symptoms of SARS-CoV-2 Infection in Pediatric Patients

Yang D, Kang HC

Purpose: Coronavirus disease 2019 (COVID-19) causes various neurological symptoms in children, as well as respiratory symptoms, and the number of reported cases is increasing with the spread of severe acute...
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Screening Children with Epilepsy for Cognitive Deficits Using the Modified Mini-Mental Scale Examination and the Digit Letter Substitution Test

Balwani M, Passi GR

Purpose: Children with epilepsy commonly have cognitive deficits; however, full-length neuropsy-chological testing is time- and resource-intensive. Therefore, we evaluated the feasibility of using the modified Mini-Mental Scale Examination (MMSE) and...
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Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea

Lee S, Kim SY, Lim BC, Kim KJ, Chae JH, Cho A

Purpose: Caveolinopathy is a disease caused by caveolin-3 (CAV3) mutations that shows a wide clinical spectrum, including isolated hyperCKemia and limb-girdle muscular dystrophy. While recent advances in next-generation sequencing (NGS)...
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Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE)

Kang HJ, Kim DS, Kim SH, Lee JH, Ko A, Kim SH, Lee JS, Kim HD, Kang HC

Purpose: This study presents the characteristics of patients with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) with SLC35A2 somatic variants in the brain who underwent epilepsy...
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Frontal Lobe Epilepsy in a Pediatric Population: Characterization of Clinical Manifestations and Semiology

Lee D, Lee J, Lee J

Purpose: Frontal lobe epilepsy (FLE) has various clinical presentations depending on the anatomy involved. Seizures are brief and can mimic psychiatric conditions, and patients often cannot describe the aura. Therefore,...
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Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy

Woo H, Lee S, Han JY, Kim WJ, Kim MJ, Seong MW, Kim SY, Cho A, Lim BC, Kim KJ, Chae JH

Purpose: X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending...
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Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients

Ahn JY, Kim SY, Lim BC, Kim KJ, Chae JH

Purpose Wieacker-Wolff syndrome is a rare disease caused by X-linked zinc finger C4H2-type containing (ZC4H2) mutations. It is characterized by arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), including impairment of...
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Changes in Sleep Patterns in Korean Early Adolescents during Sexual Maturation

Han T, Chae KY, Yoo EG, Jung MK, Ha EK, Han MY, Jee HM, Rhie S

Purpose: Teenagers’ sleep patterns show physiological delays influenced by sexual maturation and other external time-related factors. However, Korean adolescents show differences in the onset of pubertal development and have shorter...
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