A5005832907- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Molecular Biology Techniques and Applications
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Bacterial Infections and Vaccines
- DNA Repair Mechanisms
- Pancreatic function and diabetes
- Connective tissue disorders research
- Congenital limb and hand anomalies
- Congenital Diaphragmatic Hernia Studies
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Ocular Disorders and Treatments
- Genetic Neurodegenerative Diseases
- Neuroscience of respiration and sleep
- Amino Acid Enzymes and Metabolism
Eulji University
2014-2024
Pediatrics and Genetics
2024
Genome and Company (South Korea)
2024
Eulji University Hospital
2022-2023
Eulji General Hospital
2012-2016
Samsung Medical Center
2009-2014
Sungkyunkwan University
2009-2014
Zero to Three
2012
Ajou University
2012
Ketogenic diet (KD) is known to be effective in intractable epilepsy. However, the role of KD refractory status epilepticus (RSE) has not been well described. The aim this study explore patients with RSE. We retrospectively reviewed medical records four children and one adult RSE between October 2006 August 2010. All presented (SE) that was presumed associated viral encephalitis. After we failed control seizures standard measures for SE, tried KD. overall seizure frequency decreased <50%...
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis potential candidate or susceptibility genes for using multi-gene panel testing with next-generation sequencing. This included patients juvenile myoclonic epilepsy, absence and tonic-clonic seizures alone. We identified pathogenic variants according to the American College Medical Genetics Genomics guidelines case-control association analyses family...
Acute necrotizing encephalopathy (ANE) is a fulminant disease of the brain characterized by bilateral thalamic lesions, and prevalent among children in East Asia. The prognosis ANE usually poor with high mortality rate neurological sequelae. This study aimed to delineate clinical characteristics prognostic factors ANE.We retrospectively analyzed data 399 pediatric patients encephalitis who were admitted Samsung Medical Center from December 1998 March 2011. We enrolled ten (11 cases) their...
We sought to investigate the effects and side of once-weekly dulaglutide treatment for type 2 diabetes mellitus (T2DM) in patients <18 years age Korea.
Purpose A brain abscess is a serious disease of the central nerve system. We conducted this study to summarize clinical manifestations and outcomes abscesses. Methods retrospective chart review pediatric patients diagnosed with abscesses from November 1994 June 2009 was performed at Samsung Medical Center, Seoul, Korea. Results Twenty-five were included in study. On average, 1.67 cases per year identified median age 4.3 years. The common presenting fever (18/25, 72%), seizure (12/25, 48%),...
Hyperekplexia is a rare inherited neurologic disorder that characterized by hypertonia and an exaggerated startle response to sudden external stimuli. Until now, 5 genes are known be associated with hyperekplexia: GLRA1, SLC6A5, GLRB, GPHN, ARHGEF9. In this report, we performed clinical genetic analysis of 4 Korean children hyperekplexia. Two patients had typical manifestations hyperekplexia initially were misdiagnosed as epilepsy. Direct sequencing the GLRB GLRA1 revealed 2 novel mutations,...
Background and Purpose: Rufinamide (RUF) is a novel antiepileptic drug (AED) its efficacy has been proven in Lennox-Gastaut syndrome (LGS).However, there lack of data regarding the pediatric intractable epilepsies other than LGS.The purpose study was to explore tolerability RUF patients with as well LGS.Methods: This retrospective observation conducted Samsung medical center from August 2010 September 2011.Thirty seven (27 males, 10 females, aged between 1.8 18.4 years), refractory or LGS...
The ACTG1 gene encodes the cytoskeletal protein γ-actin, which functions in non‑muscle cells and is abundant auditory hair of cochlea. Autosomal dominant missense mutations are associated with DFNA20/26, a disorder that typically characterized by post‑lingual progressive hearing loss. To date, 17 have been reported 20 families DFNA20/26. present study described small family autosomal nonsyndromic A novel heterozygous mutation, c.94C>T (p.Pro32Ser), was identified using TruSight One...
Deletion and duplication of the -3.7-Mb region in 17p11.2 result two reciprocal syndrome, Smith-Magenis syndrome Potocki-Lupski syndrome. is a well-known developmental disorder. has recently been recognized as microduplication that disease In this paper, we report on clinical cytogenetic features Korean patients with Patient 1 (Smith-Magenis syndrome) was 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, delay. 2 (Potocki-Lupski syndrome), 17-yr-old boy, had...
This study analyzed and evaluated the demographic, clinical, cytogenetic data [G-banded karyotyping array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution.We collected clinical based on retrospective charts Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012.A total 190 were identified. Mean age was 5.1±1.87 years. Array CGH yielded abnormal results in 26...
Congenital cataracts can occur as a non-syndromic isolated ocular disease or part of genetic syndromes accompanied by multi-systemic disease. Approximately 50% all congenital cataract cases have heterogeneous basis. Here, we describe three generations family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral cataracts, short stature, macrocephaly, minor skeletal anomalies. We did not find any chromosomal aberrations gene copy number...
Relatively little is known about 7q terminal deletion contiguous gene syndrome. The deleted region includes more than 40 OMIM genes. We here report on a 13‐year‐old boy with7q syndrome, 6.89‐Mb sized 7q36.1q36.3, identified by oligonucleotide array comparative genomic hybridization (CGH). He showed microform holoprosencephaly with microcephaly, distinctive facial features, severe intellectual disabilities, behavior problems, seizures, short stature, penoscrotal transposition, and ulnar ray...
Abstract Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) caused by germline de novo variants in FBXO11 was recently recognized as a novel intellectual disability (ID) syndrome through reverse phenotyping after whole‐exome sequencing (WES). Fewer than 50 disease‐causing IDDFBA are reported thus far. Here, we present the first report of family showing autosomal dominantly inherited IDDFBA, harboring heterozygous variant (c.2401_2405dup;p....
Smith–Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which not known. It caused by heterozygous germline mutation in MTOR (OMIM 601231). Ten different mutations 27 individuals have been reported medical literature to date. These were all gain-of-function missense variants, and about half had c.5395G>A p.(Glu1799Lys) MTOR. Here, I...
Partial trisomy of 11q is characterized by pre/postnatal growth retardation, microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal muscle tone, inguinal hernia, and possible congenital heart defects. Here, we describe a 17‐year‐old male with 17.77 Mb‐sized [arr 11q23.3‐q25 (116,667,559 –134,434,130) ×3] partial resulting from the unbalanced translocation between chromosomes 11 22. The terminal was detected using oligonucleotide array comparative genomic hybridization...