| 2026 | Nationwide insights on early childhood neurodevelopment during a global health crisis: evidence from COVID-19 in South Korea
| JOURNAL OF GLOBAL HEALTH |
| 2026 | Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 2025 | Pharmacological and Pharmacokinetic Profile of Cannabidiol in Human Epilepsy: A Review of Metabolism, Therapeutic Drug Monitoring, and Interactions with Antiseizure Medications
| BIOMOLECULES |
| 2025 | Effectiveness and Safety of CGRP-Targeted Therapies Combined with Lifestyle Modifications for Chronic Migraine in Korean Pediatric Patients: A Retrospective Study
| BRAIN SCIENCES |
| 2025 | First case report of effective and safe application of cannabidiol to treat concurrent ALG3-CDG and Lennox-Gastaut Syndrome | NEUROLOGICAL SCIENCES |
| 2025 | Considerations for repetitive intrathecal procedures in long-term nusinersen treatment for non-ambulatory spinal muscular atrophy
| SCIENTIFIC REPORTS |
| 2025 | Clinical Efficacy and Safety of the Ketogenic Diet in Patients with Genetic Confirmation of Drug-Resistant Epilepsy
| NUTRIENTS |
| 2025 | Therapeutic Approach to Epilepsy in Patients with Mitochondrial Diseases
| YONSEI MEDICAL JOURNAL |
| 2024 | Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome | BIOMOLECULES |
| 2024 | Association between Neuroimaging Scores and Clinical Status in Pediatric Patients Diagnosed with Metachromatic Leukodystrophy | Annals of Child Neurology |
| 2024 | Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome | INDIAN JOURNAL OF PEDIATRICS |
| 2024 | Diagnosis of a Large Ependymal Cyst in a Patient with Severe Macrocephaly and No Neurological Risk Factors | Annals of Child Neurology |
| 2024 | A case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS | NEUROLOGICAL SCIENCES |
| 2024 | Therapeutic outcome of patients with Lennox-Gastaut syndrome with mitochondrial respiratory chain complex I deficiency | FRONTIERS IN NEUROLOGY |
| 2024 | Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood | INDIAN JOURNAL OF PEDIATRICS |
| 2024 | Efficacy of High-Dose Steroid Therapy on Bilateral Total Visual Loss in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) | Annals of Child Neurology |
| 2024 | Effects of the coronavirus disease outbreak on the development of neurological disorders in children: A comparison of the incidence of febrile seizure and epilepsy using an interrupted time-series approach | JOURNAL OF INFECTION AND PUBLIC HEALTH |
| 2024 | The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
| 2023 | Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea | FRONTIERS IN NEUROLOGY |
| 2023 | Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea | YONSEI MEDICAL JOURNAL |
| 2023 | Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome | JOURNAL OF CLINICAL NEUROLOGY |
| 2023 | Leigh Syndrome with <i>MT-ND5</i> Mutation and Hypertrophic Cardiomyopathy | INDIAN JOURNAL OF PEDIATRICS |
| 2023 | Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome | Clinical Nutrition Research |
| 2023 | IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2023 | 멜라스 증후군 진단에서의 혈장 아미노산과 소변 유기산 분석
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2023 | Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea | World Journal of Pediatrics |
| 2023 | A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment | Annals of Child Neurology |
| 2023 | Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome | Pediatric Neurology |
| 2022 | A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness | Annals of Child Neurology |
| 2022 | A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy | Annals of Child Neurology |
| 2022 | A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1 | Annals of Child Neurology |
| 2022 | Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction | Therapeutic Advances in Neurological Disorders |
| 2022 | Mitochondrial tRNA(His) mutation (m.12158A > G) associated with MELAS syndrome | Clinical Genetics |
| 2022 | Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome | Acta Neurologica Scandinavica |
| 2022 | Jacobsen syndrome with bilateral periventricular white matter lesions | WORLD JOURNAL OF PEDIATRICS |
| 2022 | High-Dose Prednisolone Therapy for Lennox–Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy | Annals of Child Neurology |
| 2022 | Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome | Annals of Child Neurology |
| 2021 | Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation | Frontiers in Neurology |
| 2021 | A female patient with Xp21 gene deletion syndrome | Journal of Genetic Medicine(대한의학유전학회지) |
| 2021 | Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease | Frontiers in Pediatrics |
| 2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features | CLINICAL GENETICS |
| 2021 | Clinical value of magnetic resonance spectroscopy in the initial evaluation of patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes | Annals of Child Neurology |
| 2021 | Epidemiological Features and Economic Burden of Guillain-Barre Syndrome in South Korea: A Nationwide Population-Based Study | Journal of Clinical Neurology |
| 2021 | Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report | CHILDREN-BASEL |
| 2021 | Toxic leukoencephalopathy by accidental oral ingestion of an infant’s fentanyl patch | Annals of Child Neurology |
| 2021 | Unusual clinical presentations in a patient with novel adck3 variants | Annals of Child Neurology |
| 2021 | FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia | Annals of Child Neurology |
| 2021 | Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease | EUROPEAN JOURNAL OF PEDIATRICS |
| 2020 | A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene | Journal of Genetic Medicine(대한의학유전학회지) |
| 2020 | EPG5 유전자 변이가 확인된 Vici 증후군 1례
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
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