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의료진 소개
이차곤 교수
소아청소년과 관심의료진 등록전문 진료 분야
뇌전증, 발달지연, 신경발달장애, 두통, 뇌염, 이상운동질환, 신경 유전질환, 희귀 유전질환
진료 일정
학력사항
- 성균관대학교 의학박사
- 성균관대학교 의학석사
- 이화여자대학교 의과대학 졸업
교육 및 연구경력
- 2024-2025 | 노원을지대학교병원 소아청소년과 교수
- 2018-2024 | 노원을지대학교병원 소아청소년과 부교수
- 2012-2018 | 노원을지대학교병원 소아청소년과 조교수
- 2012 | 노원을지대학교병원 소아청소년과 임상조교수
- 2012 | 아주대학교병원 임상유전학 임상강사
- 2010-2012 | 삼성서울병원 소아신경분과 임상강사
- 2006-2010 | 삼성서울병원 소아청소년과 전공의 수료
논문
- KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing. Am J Med Genet B Neuropsychiatr Genet. 2024-04.
- Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies. Neurol Genet. 2024-01.
- Effect of once weekly dulaglutide for juvenile type 2 Diabetes mellitus and obesity in Korea: a Pilot Study. Ann Pediatr Endocrinol Metab. 2023-02.
- Intracranial Vessel Wall Magnetic Resonance Imaging of Middle Cerebral Artery Dissection in Neurofibromatosis Type 1. Stroke. 2023-07.
- A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome. Ann Lab Med. 2020-12.
- Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics. J Genet Med. 2020-06.
- The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant. Am J Med Genet A. 2020-09.
- PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features. Eur J Med Genet. 2019-10.
- A novel in-frame mutation at the boundary between exon 21 and intron 21 of SCN4A in a family with paramyotonia congenita. Neurology Asia. 2020-06.
- Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys). J Genet Med. 2019-06.
- First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln). Ann Pediatr Endocrinol Metab. 2019-12.
- Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. PLoS One. 2018-06.
- A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. Mol Med Rep. 2018-04.
- Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea. J Genet Med. 2018-12.
- A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing. J Genet Med. 2018-06.
- Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family. Ann Clin Lab Sci. 2017-04.
- Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. PloS one. 2017-01.
- Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. Brain Dev. 2016-02.
- Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication. Eur J Med Genet. 2016-02.
- Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea. J Genet Med. 2016-06.
- The natural course of clinically isolated syndrome in pediatric patients. Brain Dev. 2014-08.
- A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. Am J Med Genet A. 2014-09.
- Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation. Am J Med Genet A. 2015-05.
- Clinical outcome of acute necrotizing encephalopathy in related to involving the brain stem of single institution in Korea. Korean J Pediatr. 2014-06.
- Clinical and ictal characteristics of infantile seizures: EEG correlation via long-term video EEG monitoring. Brain Dev. 2013-03.
- Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. J Hum Genet. 2013-02.
- Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH. J Genet Med. 2013-06.
- Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study. Yonsei Med J. 2013-11.
- Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. Brain Dev. 2012-10.
- Clinical features and genetic analysis of children with hyperekplexia in Korea. J Child Neurol. 2012-04.
- Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. Ann Clin Lab Sci. 2012-03.
- Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome. J Korean Med Sci. 2012-12.
- The efficacy and tolerability of rufinamide in intractable pediatric epilepsy. J Epilepsy Res. 2012-12.
- Clinical Manifestations of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Patients. J Korean Epilepsy Soc. 2011-12.
- The role of ketogenic diet in the treatment of refractory status epilepticus. Epilepsia. 2011-10.
- Successful Desensitization of Oxcarbazepine: First Case in Pediatric Patient. J Korean Child Neurol Soc. 2011-12.
- Early Diagnosis of Perinatal Ischemic Stroke Based on Clinical and Radiological Characteristics. an Child Neurol Soc. 2011-08.
- Brain abscess in Korean children: A 15-year single center study. Korean J Pediatr. 2010-05.
- Surgical outcome of severe pulmonary arterial hypertension secondary to left-to-right shunt lesions. Korean J Pediatr. 2010-02.