2016 | 25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome
| NATURE COMMUNICATIONS |
2011 | A Case of Early Onset MELAS Patient with Wolff-Parkinson-White Syndrome
| Journal of the Korean Child Neurology Society |
2011 | A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
| Journal of the Korean Child Neurology Society |
2019 | A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With Everolimus | PEDIATRIC NEUROLOGY |
2023 | A decrease in the incidence of encephalitis in South Korea during the COVID‐19 pandemic: A nationwide study between 2010 and 2021 | JOURNAL OF MEDICAL VIROLOGY |
2023 | A machine learning-based quantitative model (LogBB_Pred) to predict the blood-brain barrier permeability (logBB value) of drug compounds
| BIOINFORMATICS |
2022 | A Mixed-Lipid Diet (Medium-Chain and Long-Chain Triglycerides) for Better Tolerability and Efficiency in Pediatric Epilepsy Patients
| Annals of Child Neurology |
2014 | A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation | NEUROLOGY ASIA |
2012 | A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: a clinical and cognitive evaluation | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
2022 | A Patient with Tuberous Sclerosis with Hemimegalencephaly Presenting with Intractable Epilepsy in the Early Neonatal Period: A Case Report
| Perinatology |
2011 | A1 Segment Hypoplasia/aplasia Detected by Magnetic Resonance Angiography in Neuropediatric Patients
| Journal of the Korean Child Neurology Society |
2023 | Acute Necrotizing Myelitis Associated with COVID-19
| YONSEI MEDICAL JOURNAL |
2014 | Adjunctive Levetiracetam Treatment in Pediatric Lennox-Gastaut Syndrome | PEDIATRIC NEUROLOGY |
2018 | Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy
| JOURNAL OF CLINICAL NEUROLOGY |
2024 | Aetiology and Prognosis of Encephalitis in Korean Children: A Retrospective Single-Centre Study, 2005–2020
| YONSEI MEDICAL JOURNAL |
2019 | Aligned Brain Extracellular Matrix Promotes Differentiation and Myelination of Human-Induced Pluripotent Stem Cell-Derived Oligodendrocytes | ACS APPLIED MATERIALS & INTERFACES |
2017 | Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
| PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION |
2015 | An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development
| NATURE MEDICINE |
2022 | Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development
| PLOS GENETICS |
2022 | Analysis of trio test in neurodevelopmental disorders
| FRONTIERS IN PEDIATRICS |
2015 | Applying the bacterial meningitis score in children with cerebrospinal fluid pleocytosis: a single center's experience
| Korean Journal of Pediatrics |
2022 | Association of hypercalciuria with vitamin D supplementation in patients undergoing ketogenic dietary therapy
| FRONTIERS IN NUTRITION |
2016 | Automatic Identification of Interictal Epileptiform Discharges in Secondary Generalized Epilepsy
| COMPUTATIONAL AND MATHEMATICAL METHODS IN MEDICINE |
2010 | Behavioral improvement after transplantation of neural precursors derived from embryonic stem cells into the globally ischemic brain of adolescent rats | BRAIN & DEVELOPMENT |
2018 | BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors | NATURE MEDICINE |
2015 | Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy | NATURE MEDICINE |
2018 | Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination | NEURON |
2019 | Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy | JOURNAL OF CLINICAL INVESTIGATION |
2018 | Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation | NEUROLOGY-GENETICS |
2020 | Cannabidiol for Treating Lennox-Gastaut Syndrome and Dravet Syndrome in Korea
| JOURNAL OF KOREAN MEDICAL SCIENCE |
2013 | Catch-up growth after long-term implementation and weaning from ketogenic diet in pediatric epileptic patients | CLINICAL NUTRITION |
2017 | Cause of Death in Children With Mitochondrial Diseases | PEDIATRIC NEUROLOGY |
2014 | Changing name of epilepsy in Korea; cerebroelectric disorder(noi-jeon-jeung,뇌전증,): my epilepsy story. | EPILEPSIA |
2015 | Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses
| Korean Journal of Pediatrics |
2013 | Clinical analysis of catastrophic epilepsy in infancy and early childhood: Results of the Far-East Asia Catastrophic Epilepsy (FACE) study group | BRAIN & DEVELOPMENT |
2014 | Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
| YONSEI MEDICAL JOURNAL |
2015 | Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA | JOURNAL OF PEDIATRICS |
2021 | Clinical characteristics of KCNQ2 encephalopathy | BRAIN & DEVELOPMENT |
2009 | Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases | ACTA PAEDIATRICA |
2019 | Clinical features and treatment efficacy in cdkl5 mutation-related epileptic encephalopathy in the infant
| Annals of Child Neurology |
2021 | Clinical Features and Treatment Outcomes of Seronegative Pediatric Autoimmune Encephalitis
| JOURNAL OF CLINICAL NEUROLOGY |
2023 | Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
| NEUROLOGY |
2020 | Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development | PEDIATRIC NEUROLOGY |
2013 | Clinical Presentations and the Bacterial Meningitis Score in Children with Cerebrospinal Fluid (CSF) Pleocytosis
| Journal of the Korean Child Neurology Society |
2022 | Clinical Spectrum and Treatment Outcomes of Patients with Developmental and/or Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep
| Annals of Child Neurology |
2019 | Clobazam as an adjunctive treatment for infantile 넴는 | Epilepsy & Behavior |
2014 | Combined Use of Multiple Computational Intracranial EEG Analysis Techniques for the Localization of Epileptogenic Zones in Lennox-Gastaut Syndrome | CLINICAL EEG AND NEUROSCIENCE |
2021 | Comparative Proteome Research in a Zebrafish Model for Vanishing White Matter Disease
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
2011 | Comparative trial of low- and high-dose zonisamide as monotherapy for childhood epilepsy | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
2011 | Comparison of short- versus long-term ketogenic diet for intractable infantile spasms | EPILEPSIA |
2010 | Comparison of temporal lobectomies of children and adults with intractable temporal lobe epilepsy | CHILDS NERVOUS SYSTEM |
2023 | Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
| NATURE GENETICS |
2014 | Congenital muscular dystrophy type 1A with residual merosin expression
| Korean Journal of Pediatrics |
2017 | Could Cannabidiol be a Treatment Option for Intractable Childhood and Adolescent Epilepsy?
| Journal of Epilepsy Research |
2023 | Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders | JOURNAL OF MOLECULAR DIAGNOSTICS |
2018 | Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단
| Journal of the Korean Child Neurology Society |
2018 | Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients | BRAIN & DEVELOPMENT |
2012 | Disease-specific induced pluripotent stem cells: a platform for human disease modeling and drug discovery
| EXPERIMENTAL AND MOLECULAR MEDICINE |
2021 | Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome | EPILEPSIA |
2012 | Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defect | JOURNAL OF PAEDIATRICS AND CHILD HEALTH |