A5053693860- Epilepsy research and treatment
- Tuberous Sclerosis Complex Research
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Amino Acid Enzymes and Metabolism
- Congenital Anomalies and Fetal Surgery
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Ion channel regulation and function
- Metabolism and Genetic Disorders
- Neuroscience and Neuropharmacology Research
- Genomics and Rare Diseases
- Pharmacological Effects and Toxicity Studies
- Genetic Neurodegenerative Diseases
- Neurofibromatosis and Schwannoma Cases
- Polyomavirus and related diseases
- Metabolism, Diabetes, and Cancer
- Diet and metabolism studies
- Histiocytic Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Cancer Mechanisms and Therapy
- Neonatal and fetal brain pathology
- Infectious Diseases and Tuberculosis
- Folate and B Vitamins Research
- Gestational Diabetes Research and Management
Yonsei University
2021-2025
Severance Hospital
2023-2025
Gangnam Severance Hospital
2021-2024
University of Florence
2022
Meyer Children's Hospital
2022
SNP Genetics (South Korea)
2010
The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate-galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings assess possible predictors of postoperative seizure cognitive outcome in 47 patients with refractory epilepsy brain somatic gene variants.This is retrospective multicenter study where we performed descriptive analysis classical hypothesis testing. included the variables interest significantly associated...
To assess the anti-seizure efficacy and safety of a C10-enriched medium-chain triglyceride (MCT) ketogenic diet (KD) compared with classic KD in pediatric patients refractory epilepsy. This 16-week, open-label, randomized, controlled, crossover pilot study was conducted at Severance Children's Hospital, Seoul, South Korea, between August 2022 September 2023. Fifteen epilepsy were enrolled received for 8 weeks each. The seizure reduction rate, tolerability, two diets. enrolled. Patients...
Context: Similar genetic factors may play role in the pathogenesis of gestational diabetes mellitus (GDM) and type 2 (T2DM). However, studies on GDM are relatively scarce as compared with T2DM.
There is extensive literature on monogenic epilepsies caused by mutations in familiar channelopathy genes such as
Rapid advancements in genetic testing have significantly improved the diagnosis of rare diseases.However, development targeted therapies has progressed more slowly, leaving most conditions without effective treatment.Because 80% disorders involve nervous system, early intervention is crucial, particularly pediatric patients with progressive conditions.Antisense oligonucleotides (ASOs) emerged as promising therapeutics that offer precise modulation gene expression through RNA targeting,...
Acute ascending hemorrhagic longitudinally extensive transverse myelitis is a rare inflammatory demyelinating disorder, which invades several vertebral segments and progresses rapidly manifests severe symptoms. We present case of acute necrotizing associated with COVID-19 infection. A 10-year-old female, no previous medical history prior administration vaccination, contracted in early April 2022. Two weeks later, she suffered from posterior neck pain also presented motor weakness numbness...
<title>Abstract</title> Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the <italic>TSC1</italic> or <italic>TSC2</italic> gene. The aim of this study was to analyze genotypes and phenotypes Korean patients diagnosed with TSC expand our understanding disorder. This retrospective observational included 331 clinically between November 1990 April 2023 at Severance Children’s Hospital, Seoul, South Korea. demographic clinical characteristics were...
Purpose: Lamotrigine (LTG) is often used as adjunctive therapy in Lennox-Gastaut syndrome (LGS); however, it may worsen myoclonic and atypical absence seizures LGS patients. This study reviewed the overall efficacy safety of LTG children with LGS.Methods: retrospective included 38 patients (aged <18 years) who underwent between October 2020 March 2022 at Severance Children’s Hospital. The primary outcome was change seizure frequency 3, 6, 12 months after starting treatment. A favorable...
To analyze the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) type I chronic respiratory failure.We retrospectively reviewed seven diagnosed SMA failure who were on permanent ventilation treated at Gangnam Severance Hospital between January 2018 July 2023. Patient demographics clinical characteristics recorded, treatment progress was evaluated according to Hammersmith Infant Neurological Examination (HINE-2) Children's Philadelphia Test Neuromuscular...