김헌민 교수
Hunmin Kim
서울대학교 소아과 · 의학
연구실 소개
김헌민 교수의 연구실은 주로 소아 신경질환 및 유전성 대사질환의 기전 규명과 치료 전략 개발에 초점을 맞추고 있습니다. 특히 낙상성 경련, 근병증, 발작성 저칼륨성통증 등 소아기 질환의 임상적 특성과 유전적 기반을 깊이 있게 분석하며, 전임상 및 임상 데이터 기반의 정밀의료 접근을 추구합니다. 또한, 뇌전증 환자의 뇌파 분석과 약물 치료 경로를 전자기록 기반으로 분석하는 딥러닝 기반의 데이터 기반 연구도 활발히 진행하고 있습니다.
연구 현황
연구 성과 추이
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
주요 논문
15Despite the rapid economic growth and the high level of educational achievement in Korea, the role of women in leadership positions is severely limited. A number of affirmative policies implemented to encourage women’s labour market participation, prohibit discrimination in personnel management, improve gender representation and so on seem to have some effect, but this is slow. Nevertheless, Korean women’s status is lower than those of many developing countries as seen by various official indice
Danon disease is caused by deficiency of lysosome-associated membrane protein-2 (LAMP-2). It is characterized clinically by cardiomyopathy, myopathy, and mental retardation in boys. Herein we report a 13-year-old female patient with Danon disease who presented with early-onset skeletal myopathy and cardiomyopathy. She had a de novo novel mutation in the LAMP2 gene, and her muscles showed many autophagic vacuoles with sarcolemmal features and complete absence of LAMP-2 expression. To the best of
The current study demonstrated that the adjunctive use of intravenous LEV was effective and well tolerated in pediatric patients with refractory SE, even in patients younger than 2 years. Intravenous LEV should be considered as an effective and safe treatment option for refractory SE in pediatric patients.
We aimed to differentiate between the interictal and preictal states in epilepsy patients with focal cortical dysplasia (FCD) type-II using deep learning-based classifiers based on intracranial electroencephalography (EEG). We also investigated the practical conditions for high interictal-preictal discriminability in terms of spatiotemporal EEG characteristics and data size efficiency. Intracranial EEG recordings of nine epilepsy patients with FCD type-II (four female, five male; mean age: 10.7
The purpose of this pilot study was to analyze treatment pathways of pediatric epilepsy using the common data model (CDM) based on electronic health record (EHR) data. We also aimed to reveal whether CDM analysis was feasible and applicable to epilepsy research. We analyzed the treatment pathways of pediatric epilepsy patients from our institute who underwent antiseizure medication (ASM) treatment for at least 2 years, using the Observational Medical Outcomes Partnership (OMOP)-CDM. Subgroup ana
Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with
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 electroencephalography (EEG) recordings of the frontal, temporal, and occipital scalp regions. This study included 38 patients with frontal (n = 15), temporal (n = 13), and occipital (n = 10) IEDs and 232 controls without IEDs from a single tertiary center. All the EE
This study was performed to assess the usefulness of magnetoencephalography (MEG) as a presurgical evaluation modality in Korean pediatric patients with lesional localization-related epilepsy. The medical records and MEG findings of 13 pediatric patients (6 boys and 7 girls) with localization-related epilepsy, who underwent epilepsy surgery at Seoul National University Children's Hospital, were retrospectively reviewed. The hemispheric concordance rate was 100% (13/13 patients). The lobar or reg
Objective: The purpose of this narrative review is to introduce artificial intelligence (AI) and machine learning (ML) to pediatricians in the field of epilepsy. Background: There has been significant interest in AI and ML in the field of medicine. The number of AI research in the field of pediatrics is also increasing rapidly. AI research team often asks pediatricians to review and label the data for AI research and provide insights for planning the AI/ML algorithms. Ever-increasing medical dat
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