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소속

  • 소아과학교실

보직

  • 과장

직위

  • 부교수

연구실 위치

  • 강남세브란스병원

전화/팩스

  • 02-2019-3350 /

학력사항

  • 연세대학교 의학과 학사(1997)
    연세대학교 대학원 의학석사(2002)
    연세대학교 대학원 의학박사(2011)

교육 및 연구 경력

  • 연세대학교 의과대학 임상유전학과 연구강사
    연세대학교 의과대학 소아과학교실 연구강사
    프랑스 파리 11대학 생화학 연구소 연구원
    연세대학교 의과대학 소아과학교실 전임강사
    연세대학교 의과대학 소아과학교실 조교수
    현재 연세대학교 의과대학 소아과학교실 부교수

기타 학술 관련 경력

  • 대한 소아과학회 정회원
    대한 소아신경학회 정회원
    대한 간질학회 정회원
    대한 유전성 대사질환학회 정회원
    대한 의학유전학회 정회원

    *프랑스 파리 11대학에서 사립체 질환의 생화학적 진단 연구를 주제로 연수를 마쳤으며 이를 바탕으로 간질을 비롯한 다양한 양상의 소아신경질환에 대해 진료와 연구를 지속적으로 시행함
    질병관리본부의 희귀난치성 질환 자문의 및 사립체 질환 등 여러 유전성 대사질환 환우회에서 자문의로 활동 중임.
    동아시아 인류유전학회 연합 (EAUGHS : East Asian Union of Human Genetics Societies) 총무간사와 아시아-오세아니아 소아신경과학회 (AOCCN : Asian & Oceanian Congress of Child Neurology) 학술위원으로 국제학회에 참여중이며, 국내에서는 대한소아신경학회, 대한유전성대사질환학회 임원으로 활동하고 있음.

연구,관심분야

  • 소아 신경 질환 (pediatric neurologic disorder)
    간질 (epilepsy)
    발달 (development)
    사립체 질환 (mitochondrial disorder)
    신경대사질환 (neurometabolic disorder)
    신경유전질환 (neurogenetic disorder)

논문

  • 선천성 근긴장성 이영양증 1례
    대한신생아학회지(Journal of Korean Society Neonatology) 9/2 :204-210,2002
  • 신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례
    대한주산의학회지(Korean Journal Of Perinatology) 14/1 :50-55,2003
  • 가와사끼병 환아의 혈청 프로테옴 지도 비교
    소아과(Korean Journal of Pediatrics) 47/1 :81-89,2004
  • 소아 급성 파종성 뇌척수염의 임상양상 및 치료 결과
    대한소아신경학회지(Journal of the Korean Child Neurology Society) 11/2 :343-350,2004
  • 사립체 질환
    HANYANG MEDICAL REVIEWS 1/3 :-,2005
  • Prognostic factors of status epilepticus in children
    YONSEI MEDICAL JOURNAL 46/1 :27-33,2005
  • 영아 연축을 동반한 난치성 간질에 대한 수술 치료에 대한 고찰
    대한소아신경학회지(Journal of the Korean Child Neurology Society) 13/2 :166-171,2005
  • 소아 간질 치료에서 뇌량 전체 절제술의 결과
    대한간질학회지(Journal of Korean Epilepsy Society) 9/2 :165-171,2005
  • 영아 연축 환아에서의 발달 평가 결과
    대한소아신경학회지(Journal of the Korean Child Neurology Society) 14/2 :286-294,2006
  • 대뇌 피질 발달 기형을 동반한 난치성 소아 간질에서 케톤생성 식이요법의 효과
    Korean Journal of Pediatrics 49/2 :187-191,2006
  • Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency
    PEDIATRIC NEUROLOGY 35/2 :158-161,2006
  • Analysis of renal biopsies performed in children with abnormal findings in urinary mass screening
    ACTA PAEDIATRICA 95/ :849-853,2006
  • Neurologic manifestations and treatment of Henoch-Scho?nlein purpura
    BRAIN & DEVELOPMENT 28/ :547-,2006
  • 측두엽 간질의 삼중 병리에 대한 절제술의 경험
    대한소아신경외과학회지 3/1 :80-84,2006
  • Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect
    대한소아신경학회지(Journal of the Korean Child Neurology Society) 14/2 :207-214,2006
  • A Case of Cogential Fiber Type Disproportion With Multiple Anomalies
    대한소아신경학회지(Journal of the Korean Child Neurology Society) 14/2 :328-332,2006
  • Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects
    EPILEPSIA 48/1 :82-88,2007
  • Efficacy and tolerability of the ketogenic diet according to lipid:nonlipid ratios - Comparison of 3:1 with 4:1 diet
    EPILEPSIA 48/4 :801-805,2007
  • Nonspecific mitochondrial disease with epilepsy in children: Diagnostic approaches and epileptic phenotypes
    CHILDS NERVOUS SYSTEM 23/ :1301-1307,2007
  • 사립체 질환의 이해
    대한소아신경학회지(Journal of the Korean Child Neurology Society) 15/1 :11-19,2007
  • Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions
    Epilepsia 49/ :685-690,2008
  • 레녹스 가스토 증후군에서 뇌량절제술
    대한간질학회지(Journal of Korean Epilepsy Society) 12/1 :41-45,2008
  • Changing the paradigm of 1-stage total callosotomy for the treatment of pediatric generalized epilepsy
    Journal of Neurosurgery-Pediatrics 2/ :29-36,2008
  • 피질 이형성증과 미세이형성의 영상 의학적, 전기생리적 및 임상적 차이
    대한소아신경외과학회지(The Korean Journal of Pediatric Neurosurgery) 5/1 :30-36,2008
  • 소아 만성 두통 환자에서의 Magnetic Resonance Angiography 결과 분석
    대한소아신경학회지(Journal of the Korean Child Neurology Society) 16/2 :175-181,2008
  • 여러 가지 대사질환에서의 간질
    대한소아과학회지(Journal of the Korean Pediatric Society) 51/12 :1290-1294,2008
  • 소아 청소년 간질에서 토피라메이트와 관련된 인지 기능 장애
    대한간질학회지(Journal of Korean Epilepsy Society) 12/s1 :67-70,2008
  • Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects
    European Radiology 18/ :1741-1748,2008
  • Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis
    Metabolic Brain Disease 23/3 :235-242,2008
  • Evaluation of renal function in children with mitochondrial respiratory chain complex defect: usefulness of cystatin C
    Acta Paediatrica 98/6 :1014-1018,2009
  • Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases
    Acta Paediatrica 98/11 :1825-1829,2009
  • 소아 사립체 질환에서 시각 유발전위검사의 유용성
    Korean Journal of Pediatrics 52/4 :471-475,2009
  • 소아 뇌갈림증의 신경영상학적 소견 및 임상 양상
    Korean Journal of Pediatrics 52/4 :458-463,2009
  • Caregiver's Burden and Quality of Life in Mitochondrial Disease
    Pediatric Neurology 42/4 :271-276,2010
  • A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency
    Brain & Development 32/3 :253-257,2010
  • Initial Experiences with Proton MR Spectroscopy in Treatment Monitoring of Mitochondrial Encephalopathy
    YONSEI MEDICAL JOURNAL 51/5 :672-675,2010
  • Iron deficiency in children with mitochondrial disease
    Metabolic Brain Disease 25/2 :185-189,2010
  • A case of hippocampal sclerosis diagnosed as cortical dysplasia due to preoperative brain MRI finding
    Korean Journal of Pediatrics 53/1 :106-110,2010
  • Electrocardiography as an early cardiac screening test in children with mitochondrial disease
    Korean Journal of Pediatrics 54/5 :644-647,2010
  • 신생아기에 진단된 미토콘드리아 질환 3례
    Journal Of The Korean Society Of Neonatology(대한신생아학회지) 17/2 :254-261,2010
  • Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect
    Korean Journal of Pediatrics 53/12 :994-999,2010
  • Leigh 증후군 환아에서의 안과적 이상 소견
    Korean Journal of Pediatrics 53/2 :163-166,2010
  • Comparative trial of low- and high-dose zonisamide as monotherapy for childhood epilepsy
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 20/7 :558-563,2011
  • A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 18/3 :272-276,2011
  • A Case of Early Onset MELAS Patient with Wolff-Parkinson-White Syndrome
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 18/3 :266-271,2011
  • A1 Segment Hypoplasia/aplasia Detected by Magnetic Resonance Angiography in Neuropediatric Patients
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 18/3 :231-239,2011
  • Mitochondria DNA Polymorphisms Are Associated with Susceptibility to Endometriosis
    DNA AND CELL BIOLOGY 31/3 :316-321,2012
  • Efficacy of VeinViewer in pediatric peripheral intravenous access:a randomized controlled trial
    EUROPEAN JOURNAL OF PEDIATRICS 171/7 :1121-1125,2012
  • Various indications for a modified Atkins diet in intractable childhood epilepsy
    BRAIN & DEVELOPMENT 34/ :570-575,2012
  • Effects of cytochrome P450 (CYP)2C19 polymorphisms on pharmacokinetics of phenobarbital in neonates and infants with seizures
    ARCHIVES OF DISEASE IN CHILDHOOD 97/6 :569-572,2012
  • Rufinamide as an adjuvant treatment in children with Lennox-Gastaut syndrome
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 21/4 :288-291,2012
  • Genetic and Epileptic Features in Rett Syndrome
    YONSEI MEDICAL JOURNAL 53/3 :495-500,2012
  • Effects of lamotrigine on cognition and behavior compared to carbamazepine as monotherapy for children with partial epilepsy
    BRAIN & DEVELOPMENT 34/10 :818-823,2012
  • Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex i defect
    JOURNAL OF PAEDIATRICS AND CHILD HEALTH 48/11 :1016-1020,2012
  • A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: A clinical and cognitive evaluation
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 21/9 :679-684,2012
  • An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 20/1 :28-32,2012
  • Epilepsy in Korean patients with Angelman syndrome
    Korean Journal of Pediatrics 55/5 :171-176,2012
  • Mitochondrial disease and epilepsy
    BRAIN & DEVELOPMENT 35/35 :757-761,2013
  • Seizure outcome of infantile spasms with focal cortical dysplasia
    BRAIN & DEVELOPMENT 35/35 :816-820,2013
  • Clinical Presentations and the Bacterial Meningitis Score in Children with Cerebrospinal Fluid (CSF) Pleocytosis
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 21/2 :46-52,2013
  • Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsy
    EPILEPSY & BEHAVIOR 37c/- :43-48,2014
  • Congenital muscular dystrophy type 1A with residual merosin expression
    Korean Journal of Pediatrics 57/3 :149-152,2014
  • Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy
    Korean Journal of Pediatrics 57/5 :232-239,2014
  • Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation
    YONSEI MEDICAL JOURNAL 55/4 :1157-1160,2014
  • Ophthalmological manifestations in patients with Leigh syndrome
    BRITISH JOURNAL OF OPHTHALMOLOGY 99/4 :528-535,2015
  • Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses
    Korean Journal of Pediatrics 58/5 :194-198,2015
  • Clinical and Biochemical Diagnosis in Children with Leigh Syndrome
    대한 유전성 대사질환 학회지 2015;15(2 :72-77,2015
  • Neonatal Mitochondrial Respiratory Chain Defect and Vaginal Embryonal Rhabdomyosarcoma:Possibility of Oncogenesis?
    대한 유전성 대사질환 학회지 15/1 :25-28,2015
  • 미토콘드리아 호흡연쇄 복합체 결함이 동반된 난치성 소아 뇌전증에서의 Zonisamide 부가 요법
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 24/3 :89-94,2016
  • Juvenile Myasthenia Gravis in Korea: Subgroup Analysis According to Sex and Onset Age
    JOURNAL OF CHILD NEUROLOGY 31/14 :1561-4568,2016
  • Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
    PEDIATRIC NEUROLOGY 64/- :59-65,2016
  • Cause of Death in Children With Mitochondrial Diseases
    PEDIATRIC NEUROLOGY 66/ :82-88,2017
  • Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline
    FRONTIERS IN NEUROLOGY 8/Article :1-9,2017
  • Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease
    PEDIATRIC NEUROLOGY 71/ :43-49,2017
  • An analysis of a novel, short-term therapeutic psychoeducational program for children and adolescents with chronic neurological illness and their parents; feasibility and efficacy
    FRONTIERS IN NEUROSCIENCE 11/Articl :1-8,2017
  • Cerebral Palsy due to Intracranial Hemorrhage Caused by Consumptive Coagulopathy in Protein C Deficiency: A Case Report
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 25/1 :44-47,2017
  • 드라베 증후군의 SCN1A 유전자 변이 양상
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 25/1 :9-12,2017
  • A Large Saccular Aneurysm of the Basilar Artery in a Girl With Acute Hemiparesis
    PEDIATRIC NEUROLOGY 75/ :99-100,2017
  • Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects
    JOURNAL OF CLINICAL NEUROLOGY 13/4 :359-365,2017
  • Molecular diagnosis of myoclonus epilepsy associated with ragged-red fibers syndrome in the absence of ragged red fibers
    FRONTIERS IN NEUROLOGY 8/Article :1-4,2017

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