Browsing "1. Journal Papers" by Author : 1249

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Issue DateTitleJournal Title
201625-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome NATURE COMMUNICATIONS
2011A Case of Early Onset MELAS Patient with Wolff-Parkinson-White Syndrome Journal of the Korean Child Neurology Society
2011A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis Journal of the Korean Child Neurology Society
2019A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With EverolimusPEDIATRIC NEUROLOGY
2023A decrease in the incidence of encephalitis in South Korea during the COVID‐19 pandemic: A nationwide study between 2010 and 2021JOURNAL OF MEDICAL VIROLOGY
2023A machine learning-based quantitative model (LogBB_Pred) to predict the blood-brain barrier permeability (logBB value) of drug compounds BIOINFORMATICS
2022A Mixed-Lipid Diet (Medium-Chain and Long-Chain Triglycerides) for Better Tolerability and Efficiency in Pediatric Epilepsy Patients Annals of Child Neurology
2014A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutationNEUROLOGY ASIA
2012A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: a clinical and cognitive evaluationSEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2022A Patient with Tuberous Sclerosis with Hemimegalencephaly Presenting with Intractable Epilepsy in the Early Neonatal Period: A Case Report Perinatology
2011A1 Segment Hypoplasia/aplasia Detected by Magnetic Resonance Angiography in Neuropediatric Patients Journal of the Korean Child Neurology Society
2023Acute Necrotizing Myelitis Associated with COVID-19 YONSEI MEDICAL JOURNAL
2014Adjunctive Levetiracetam Treatment in Pediatric Lennox-Gastaut SyndromePEDIATRIC NEUROLOGY
2018Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy JOURNAL OF CLINICAL NEUROLOGY
2024Aetiology and Prognosis of Encephalitis in Korean Children: A Retrospective Single-Centre Study, 2005–2020 YONSEI MEDICAL JOURNAL
2019Aligned Brain Extracellular Matrix Promotes Differentiation and Myelination of Human-Induced Pluripotent Stem Cell-Derived OligodendrocytesACS APPLIED MATERIALS & INTERFACES
2017Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION
2015An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development NATURE MEDICINE
2022Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development PLOS GENETICS
2022Analysis of trio test in neurodevelopmental disorders FRONTIERS IN PEDIATRICS
2015Applying the bacterial meningitis score in children with cerebrospinal fluid pleocytosis: a single center's experience Korean Journal of Pediatrics
2022Association of hypercalciuria with vitamin D supplementation in patients undergoing ketogenic dietary therapy FRONTIERS IN NUTRITION
2016Automatic Identification of Interictal Epileptiform Discharges in Secondary Generalized Epilepsy COMPUTATIONAL AND MATHEMATICAL METHODS IN MEDICINE
2010Behavioral improvement after transplantation of neural precursors derived from embryonic stem cells into the globally ischemic brain of adolescent ratsBRAIN & DEVELOPMENT
2018BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumorsNATURE MEDICINE
2015Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsyNATURE MEDICINE
2018Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical DyslaminationNEURON
2019Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsyJOURNAL OF CLINICAL INVESTIGATION
2018Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylationNEUROLOGY-GENETICS
2020Cannabidiol for Treating Lennox-Gastaut Syndrome and Dravet Syndrome in Korea JOURNAL OF KOREAN MEDICAL SCIENCE
2013Catch-up growth after long-term implementation and weaning from ketogenic diet in pediatric epileptic patientsCLINICAL NUTRITION
2017Cause of Death in Children With Mitochondrial DiseasesPEDIATRIC NEUROLOGY
2014Changing name of epilepsy in Korea; cerebroelectric disorder(noi-jeon-jeung,뇌전증,): my epilepsy story.EPILEPSIA
2015Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses Korean Journal of Pediatrics
2013Clinical analysis of catastrophic epilepsy in infancy and early childhood: Results of the Far-East Asia Catastrophic Epilepsy (FACE) study groupBRAIN & DEVELOPMENT
2014Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy YONSEI MEDICAL JOURNAL
2015Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CAJOURNAL OF PEDIATRICS
2021Clinical characteristics of KCNQ2 encephalopathyBRAIN & DEVELOPMENT
2009Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseasesACTA PAEDIATRICA
2019Clinical features and treatment efficacy in cdkl5 mutation-related epileptic encephalopathy in the infant Annals of Child Neurology
2021Clinical Features and Treatment Outcomes of Seronegative Pediatric Autoimmune Encephalitis JOURNAL OF CLINICAL NEUROLOGY
2023Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene NEUROLOGY
2020Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical DevelopmentPEDIATRIC NEUROLOGY
2013Clinical Presentations and the Bacterial Meningitis Score in Children with Cerebrospinal Fluid (CSF) Pleocytosis Journal of the Korean Child Neurology Society
2022Clinical Spectrum and Treatment Outcomes of Patients with Developmental and/or Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep Annals of Child Neurology
2019Clobazam as an adjunctive treatment for infantile 넴는Epilepsy & Behavior
2014Combined Use of Multiple Computational Intracranial EEG Analysis Techniques for the Localization of Epileptogenic Zones in Lennox-Gastaut SyndromeCLINICAL EEG AND NEUROSCIENCE
2021Comparative Proteome Research in a Zebrafish Model for Vanishing White Matter Disease INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2011Comparative trial of low- and high-dose zonisamide as monotherapy for childhood epilepsySEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2011Comparison of short- versus long-term ketogenic diet for intractable infantile spasmsEPILEPSIA
2010Comparison of temporal lobectomies of children and adults with intractable temporal lobe epilepsyCHILDS NERVOUS SYSTEM
2023Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development NATURE GENETICS
2014Congenital muscular dystrophy type 1A with residual merosin expression Korean Journal of Pediatrics
2017Could Cannabidiol be a Treatment Option for Intractable Childhood and Adolescent Epilepsy? Journal of Epilepsy Research
2023Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental DisordersJOURNAL OF MOLECULAR DIAGNOSTICS
2018Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단 Journal of the Korean Child Neurology Society
2018Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patientsBRAIN & DEVELOPMENT
2012Disease-specific induced pluripotent stem cells: a platform for human disease modeling and drug discovery EXPERIMENTAL AND MOLECULAR MEDICINE
2021Disparate treatment outcomes according to presence of pathogenic mutations in West syndromeEPILEPSIA
2012Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defectJOURNAL OF PAEDIATRICS AND CHILD HEALTH

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