2020 | The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy | EPILEPTIC DISORDERS |
2020 | Sequence-specific prediction of the efficiencies of adenine and cytosine base editors | NATURE BIOTECHNOLOGY |
2020 | Long-term outcomes of ketogenic diet in patients with tuberous sclerosis complex-derived epilepsy | EPILEPSY RESEARCH |
2020 | Efficacy and Safety of Lacosamide in Adolescents with Lennox-Gastaut Syndrome
| Annals of Child Neurology |
2020 | Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern | EPILEPSY RESEARCH |
2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
2020 | Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
| FRONTIERS IN NEUROLOGY |
2020 | Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development | PEDIATRIC NEUROLOGY |
2019 | Prognostic Factors for Absence Epilepsy in Childhood
| Annals of Child Neurology |
2019 | Treatment Response to Acquired Aphasia with Seizures and Prognosis through Electroencephalogram on Cognitive Function
| Annals of Child Neurology |
2019 | Clinical features and treatment efficacy in cdkl5 mutation-related epileptic encephalopathy in the infant
| Annals of Child Neurology |
2019 | Generation of an Induced Pluripotent Stem Cell (iPSC) Line From a 42-year-old Adult Cerebral Type X-linked Adrenoleukodystrophy (X-ALD) Patient
| STEM CELL RESEARCH |
2019 | Predicting the Outcome of Critically Ill Children and Adolescents with Electroencephalography
| Annals of Child Neurology |
2019 | Precise detection of low-level somatic mutation in resected epilepsy brain tissue | ACTA NEUROPATHOLOGICA |
2019 | Genetic and clinical features of SCN8A developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
2019 | Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy | JOURNAL OF CLINICAL INVESTIGATION |
2019 | Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities | PEDIATRIC NEUROLOGY |
2019 | Optimized Treatment for Infantile Spasms: Vigabatrin versus Prednisolone versus Combination Therapy
| Journal of Clinical Medicine |
2019 | Short- and long-term seizure-free outcomes of dietary treatment in infants according to etiology | Seizure - European Journal of Epilepsy |
2019 | Clobazam as an adjunctive treatment for infantile 넴는 | Epilepsy & Behavior |
2019 | A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With Everolimus | PEDIATRIC NEUROLOGY |
2019 | The use of technical replication for detection of low-level somatic mutations in next-generation sequencing
| NATURE COMMUNICATIONS |
2019 | Aligned Brain Extracellular Matrix Promotes Differentiation and Myelination of Human-Induced Pluripotent Stem Cell-Derived Oligodendrocytes | ACS APPLIED MATERIALS & INTERFACES |
2019 | Epilepsy Surgery for Children With Low-Grade Epilepsy-Associated Tumors: Factors Associated With Seizure Recurrence and Cognitive Function | PEDIATRIC NEUROLOGY |
2018 | BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors | NATURE MEDICINE |
2018 | 미토콘드리아 질환에서 웨스트 증후군 환자의 경련 발생 연령에 따른 임상 양상 비교
| Journal of the Korean Child Neurology Society |
2018 | Rufinamide efficacy and safety in children aged 1-4 years with Lennox-Gastaut syndrome | BRAIN & DEVELOPMENT |
2018 | Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation | NEUROLOGY-GENETICS |
2018 | Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단
| Journal of the Korean Child Neurology Society |
2018 | Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome | PEDIATRICS |
2018 | Interregional metabolic connectivity of 2-deoxy-2[18 F]fluoro-D-glucose positron emission tomography in vagus nerve stimulation for pediatric patients with epilepsy: A retrospective cross-sectional study | EPILEPSIA |
2018 | Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination | NEURON |
2018 | Vigabatrin and high-dose prednisolone therapy for patients with West syndrome | EPILEPSY RESEARCH |
2018 | Three-dimensional brain-like microenvironments facilitate the direct reprogramming of fibroblasts into therapeutic neurons | NATURE BIOMEDICAL ENGINEERING |
2018 | The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
| FRONTIERS IN NEUROLOGY |
2018 | Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
| EPILEPSIA OPEN |
2018 | Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy
| JOURNAL OF CLINICAL NEUROLOGY |
2018 | Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients | BRAIN & DEVELOPMENT |
2018 | Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
2018 | Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
| BMC MEDICAL GENOMICS |
2018 | Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
| JOURNAL OF CLINICAL NEUROLOGY |
2017 | Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
| PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION |
2017 | Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN)
| STEM CELL RESEARCH |
2017 | Mowat-Wilson syndrome presenting with fever-associated seizures | EPILEPTIC DISORDERS |
2017 | Low glycemic index treatment in patients with drug-resistant epilepsy | BRAIN & DEVELOPMENT |
2017 | 국소 겉질 형성이상으로 인한 소아 뇌전증 환자에서 뇌전증 수술 후 항경련제 복용 중단
| Journal of the Korean Child Neurology Society |
2017 | KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예
| Journal of the Korean Child Neurology Society |
2017 | SPTBN2와 연관된 spinocerebellar ataxia type 5를진단받은 환자
| Journal of the Korean Child Neurology Society |
2017 | 드라베 증후군의 SCN1A 유전자 변이 양상
| Journal of the Korean Child Neurology Society |
2017 | Long-term epilepsy-associated tumor in the amygdala of a 16-year-old boy: report of a rare case having intranuclear filaments | BRAIN TUMOR PATHOLOGY |