Jeehun Lee
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Quantitative Muscle Ultrasound: A Non‐Invasive Biomarker for Monitoring Duchenne Muscular Dystrophy Open
Introduction/Aims Quantitative muscle ultrasound (QMUS) shows promise as a non‐invasive biomarker for monitoring functional status in Duchenne muscular dystrophy (DMD). We evaluated the correlation between QMUS in various muscles and funct…
Genotype-Phenotype Correlations and Functional Outcomes in Pediatric Patients with KCNQ2-Related Epilepsy: A Multicenter Observational Study in Korea Open
Purpose: Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and e…
View article: Evaluation of AAV transduction efficiency via multiple delivery routes: Insights from peripheral and central nervous system analysis
Evaluation of AAV transduction efficiency via multiple delivery routes: Insights from peripheral and central nervous system analysis Open
This study evaluates the biodistribution and transduction efficiency of adeno-associated virus serotype 9 (AAV9) vectors administered via intracerebroventricular (ICV), intra-arterial (IA), and intravenous (IV) routes in a murine model. Qu…
Safety and Tolerability of Wharton’s Jelly-Derived Mesenchymal Stem Cells for Patients With Duchenne Muscular Dystrophy: A Phase 1 Clinical Study Open
These results demonstrated that EN001 are safe and well tolerated for patients with DMD, and did not cause serious adverse events. The efficacy of EN001 could be confirmed through larger-scale future studies that incorporate repeated dosin…
Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome Open
Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap…
View article: Efficacy and safety of perampanel in patients with seizures associated with Lennox–Gastaut syndrome: A randomized trial
Efficacy and safety of perampanel in patients with seizures associated with Lennox–Gastaut syndrome: A randomized trial Open
Objectives The Phase 3 Study 338 (NCT02834793) assessed long‐term clinical outcomes of adjunctive perampanel in patients ≥2 years of age with uncontrolled seizures associated with Lennox–Gastaut syndrome (LGS). Methods Eligible patients we…
Clinical feature, <i>GALC</i> variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years Open
Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by deficiency of the galactocerebrosidase (GALC) due to variants in the GALC gene. Here, we provide the first and the largest comprehensive analysis of clinica…
Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea Open
Introduction Nusinersen is the first drug approved for spinal muscular atrophy (SMA) treatment. In this study, we aimed to evaluate the long-term safety and efficacy of nusinersen, assess the therapeutic effects based on the treatment init…
Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important Open
Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of …
<span><i>PRRT2</i></span>‐positive self‐limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers Open
Objective Self‐limited infantile epilepsy (SeLIE) has distinctive clinical features, and the PRRT2 gene is known to be a considerable genetic cause. There have been a few studies on PRRT2 ‐positive SeLIE only, and anti‐seizure medications …
Complications of the Central Nervous System in Pediatric Patients With Common Cold Coronavirus Infection During 2014–2019 Open
ccCoV infection may cause severe clinical manifestations such as CNS complications or neurologic sequelae, even in previously healthy children.
A New Method of Myostatin Inhibition in Mice via Oral Administration of Lactobacillus casei Expressing Modified Myostatin Protein, BLS-M22 Open
Myostatin is a member of the transforming growth factor-beta superfamily and is an endogenous negative regulator of muscle growth. This study aimed to determine whether an oral administration of Lactobacillus casei expressing modified huma…
Frontal Lobe Epilepsy in a Pediatric Population: Characterization of Clinical Manifestations and Semiology Open
Purpose: Frontal lobe epilepsy (FLE) has various clinical presentations depending on the anatomy involved. Seizures are brief and can mimic psychiatric conditions, and patients often cannot describe the aura. Therefore, it is difficult to …
Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability Open
The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) gene is associated with intellectual disability, early onset seizures, and autism spectrum disorders. This study aimed to determine the pathogenetic mechanism of the MBOAT7 …
Diffuse Cerebral Vasospasm After Aneurysmal Subarachnoid Hemorrhage in a 15-Year-Old Girl: A Case Report Open
Diffuse cerebral vasospasm after subarachnoid hemorrhage (SAH) is a complication resulting in an ischemic condition presenting with altered mentality and followed by motor or speech impairment. It is uncommon in pediatric population and re…
The Role of Focal Epilepsy Features in Defining <i>SCN1A</i> Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy Open
Background and Purpose: This study was aimed to describe focal epilepsy features of SCN1A mutation-positive Dravet syndrome patients.Methods: A total of 82 SCN1A mutation-positive patients were reviewed retrospectively (39 boys and 43 girl…
Nanoplasmonic immunosensor for the detection of SCG2, a candidate serum biomarker for the early diagnosis of neurodevelopmental disorder Open
The neural circuits of the infant brain are rapidly established near 6 months of age, but neurodevelopmental disorders can be diagnosed only at the age of 2–3 years using existing diagnostic methods. Early diagnosis is very important to al…
A Case of Mitochondrial Trifunctional Protein Deficiency with HADHB Variants Diagnosed Using Whole-Exome Sequencing Open
Mitochondrial trifunctional protein (MTP) is a hetero-multimeric enzyme complex comprised of four α-subunits and four β-subunits that is involved in mitochondrial β-oxidation of fatty acids.MTP deficiency occurs due to variations in the HA…
Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals Open
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical feat…
The Value of High-Resolution Vessel Wall Magnetic Resonance Imaging in the Diagnosis and Management of Primary Angiitis of the Central Nervous System in Children Open
Purpose: High-resolution vessel wall-magnetic resonance imaging (VW-MRI) has been used to detect regional vessel wall pathology, significantly contributing to the diagnosis of primary angiitis of the central nervous system (PACNS) from oth…
Altered Gene Expression Profiles in Neural Stem Cells Derived from Duchenne Muscular Dystrophy Patients with Intellectual Disability Open
Intellectual disability (ID) is a neurodevelopmental disorder defined by below-average intelligence (intelligence quotient of <70) accompanied by adaptive behavior deficits. Defects in the functions of neural stem cells during brain develo…
Wharton’s Jelly-Derived Mesenchymal Stem Cells Reduce Fibrosis in a Mouse Model of Duchenne Muscular Dystrophy by Upregulating microRNA 499 Open
The aim of this study was to evaluate the therapeutic effects and mechanisms of Wharton’s jelly-derived mesenchymal stem cells (WJ-MSCs) in an animal model of Duchenne muscular dystrophy (DMD). Mdx mice (3–5 months old) were administered f…
Gamma-Knife Radiosurgery for Hypothalamic Hamartoma-Related Epilepsy Open
Purpose Hypothalamic hamartoma (HH), a rare congenital disorder, can cause intractable epilepsy and requires optimal surgical treatment. This study analyzed the clinical characteristics of HH and evaluated seizure outcomes and the safety o…
Corrigendum: Characteristics of Genetic Variations Associated With Lennox-Gastaut Syndrome in Korean Families Open
[This corrects the article DOI: 10.3389/fgene.2020.590924.].
Successful weaning from mechanical ventilation in a patient with SMA type 1 treated with nusinersen Open
SMA type 1 is the most severe type, characterized by early onset at <6 months of age, and rapid progression resulting in permanent assisted ventilation before 2 years of life. Supportive care was the only treatment until the approval of nu…
Genomic Analysis of Korean Patient With Microcephaly Open
Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes. We comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients. We analyze…