Ki Joong Kim
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View article: Bogijetong Decoction and its Selected Formulation Relieve the Regulation of Neuropathic Pain by Modulating Anti-Inflammatory Cytokines
Bogijetong Decoction and its Selected Formulation Relieve the Regulation of Neuropathic Pain by Modulating Anti-Inflammatory Cytokines Open
Purpose: This study was conducted to identify the anti-inflammatory activities of Bogijetong decoction (BJD) and BJD-derived Be decoction (BeD) in an animal model of neuropathic injury in which the sciatic nerve was ligated.Methods: BJD, B…
View article: Phenotype of Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children
Phenotype of Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children Open
Our 43 pediatric patients with relapsing MOGAD showed a tendency toward early relapse and various relapse phenotypes. The overall prognoses of these patients were good regardless of phenotype or response to second-line immunosuppressant tr…
View article: Synthesizing Highly Crystalline Graphite Powder from Bulk Polyethylene Waste for Lithium-Ion Battery Anodes
Synthesizing Highly Crystalline Graphite Powder from Bulk Polyethylene Waste for Lithium-Ion Battery Anodes Open
Upcycling plastic waste into graphite can potentially be used, in conjunction with other methods, to manage existing waste materials and diversify graphite supply chains. However, synthesizing large quantities of crystalline graphite powde…
View article: Synthesizing Highly Crystalline Graphite Powder for Lithium-Ion Battery Anodes from Bulk Polyethylene Waste
Synthesizing Highly Crystalline Graphite Powder for Lithium-Ion Battery Anodes from Bulk Polyethylene Waste Open
Upcycling plastic waste into graphite can potentially be used to manage existing waste materials and diversify graphite supply chains. However, synthesizing large quantities of crystalline graphite powder from plastic waste, particularly p…
View article: Synthesizing Highly Crystalline Graphite Powder from Bulk Polyethylene Waste for Lithium-Ion Battery Anodes
Synthesizing Highly Crystalline Graphite Powder from Bulk Polyethylene Waste for Lithium-Ion Battery Anodes Open
Upcycling plastic waste into graphite can potentially be used, in conjunction with other methods, to manage existing waste materials and diversify graphite supply chains. However, synthesizing large quantities of crystalline graphite powde…
View article: Upcycling linear low-density polyethylene waste to turbostratic graphene for high mass loading supercapacitors
Upcycling linear low-density polyethylene waste to turbostratic graphene for high mass loading supercapacitors Open
Linear low-density polyethylene (LLDPE) waste is difficult to upcycle into more valuable carbon materials because it tends to completely decompose into small molecules during thermal processing. In this work, LLDPE is upcycled into a high …
View article: Broadening the scope of multigene panel analysis for adult epilepsy patients
Broadening the scope of multigene panel analysis for adult epilepsy patients Open
Objective Epilepsy is a suitable target for gene panel sequencing because a considerable portion of epilepsy is now explained by genetic components, especially in syndromic cases. However, previous gene panel studies on epilepsy have mostl…
View article: Single-channel seizure detection with clinical confirmation of seizure locations using CHB-MIT dataset
Single-channel seizure detection with clinical confirmation of seizure locations using CHB-MIT dataset Open
Introduction Long-term electroencephalography (EEG) monitoring is advised to patients with refractory epilepsy who have a failure of anti-seizure medication and therapy. However, its real-life application is limited mainly due to the use o…
View article: <scp><i>SYNGAP1</i></scp>‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights
<span><i>SYNGAP1</i></span>‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights Open
The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with SYNGAP1 mutations from a longitudinal aspect. Clinical data, genetic profil…
View article: Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study
Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study Open
Purpose: Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of t…
View article: Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy
Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy Open
Objective Temporal coordination between oscillations enables intercortical communication and is implicated in cognition. Focal epileptic activity can affect distributed neural networks and interfere with these interactions. Refractory pedi…
View article: Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort
Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort Open
Objective Although pediatric epilepsy is an independent disease entity, it is often observed in pediatric neurodevelopmental disorders (NDDs) as a major or minor clinical feature, which might provide diagnostic clues. This study aimed to i…
View article: Deep learning-based automated detection and multiclass classification of focal interictal epileptiform discharges in scalp electroencephalograms
Deep learning-based automated detection and multiclass classification of focal interictal epileptiform discharges in scalp electroencephalograms Open
Detection and spatial distribution analyses of interictal epileptiform discharges (IEDs) are important for diagnosing, classifying, and treating focal epilepsy. This study proposes deep learning-based models to detect focal IEDs in electro…
View article: Deep learning-based automated detection and multiclass classification of focal interictal epileptiform discharges in scalp electroencephalograms
Deep learning-based automated detection and multiclass classification of focal interictal epileptiform discharges in scalp electroencephalograms Open
Detection and spatial distribution analysis of interictal epileptiform discharges (IEDs) are important for diagnosing, classifying, and treating focal epilepsy. This study proposes deep learning-based models to detect focal IEDs in electro…
View article: A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel <i>ISCA2</i> Variants, Mimicking Post-Infectious Encephalitis
A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel <i>ISCA2</i> Variants, Mimicking Post-Infectious Encephalitis Open
ISCA2 loss of function leads to leukodystrophy and developmental regression (multiple mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of MMDS4 presenting with rapid developmental regression and leukodystrophy…
View article: The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure Open
Background Phase I of the Korean Undiagnosed Diseases Program (KUDP), performed for 3 years, has been completed. The Phase I program aimed to solve the problem of undiagnosed patients throughout the country and develop infrastructure, incl…
View article: Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy
Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy Open
This corrects the article "Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy" on page 127.
View article: Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases Open
Despite recent advancements in our understanding of genetic etiology and its molecular and physiological consequences, it is not yet clear what genetic features determine the inheritance pattern of a disease. To address this issue, we cond…
View article: Clinical outcomes of pediatric cerebral cavernous malformation: an analysis of 124 consecutive cases
Clinical outcomes of pediatric cerebral cavernous malformation: an analysis of 124 consecutive cases Open
OBJECTIVE One-fourth of cerebral cavernous malformation (CCM) patients are children, but studies on these patients are scarce. This study aimed to identify the clinical presentation of pediatric CCM patients and to investigate clinical out…
View article: Fatal systemic disorder caused by biallelic variants in FARSA
Fatal systemic disorder caused by biallelic variants in FARSA Open
Background Aminoacyl tRNA transferases play an essential role in protein biosynthesis, and variants of these enzymes result in various human diseases. FARSA, which encodes the α subunit of cytosolic phenylalanyl-tRNA synthetase, was recent…
View article: Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series
Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series Open
Purpose: Patients with self-limited epilepsy with centrotemporal spikes (SLECTS) rarely experience generalized tonic-clonic seizures (GTCS) after remission, and post-remission GTCS has not been thoroughly described in earlier studies. Here…
View article: Whole genomic approach in mutation discovery of infantile spasms patients
Whole genomic approach in mutation discovery of infantile spasms patients Open
Infantile spasms (IS) are a clinically and genetically heterogeneous group of epilepsy disorders in early infancy. The genetic backgrounds of IS have been gradually unraveled along with the increased application of next-generation sequenci…
View article: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy Open
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 on ag…
View article: Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea
Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea Open
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) ha…
View article: Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients
Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients Open
PurposeWieacker-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 …
View article: The Korean Undiagnosed Diseases Program Phase I: Expansion of the Nationwide Network and the Development of Long-term Infrastructures
The Korean Undiagnosed Diseases Program Phase I: Expansion of the Nationwide Network and the Development of Long-term Infrastructures Open
Background Phase I of the Korean Undiagnosed Diseases Program (KUDP), performed for 3 years, has been completed. The Phase I program aimed to solve the problem of undiagnosed patients throughout the country and develop infrastructures, inc…