소아청소년과
이차곤 교수
- [전문분야]
- 신경질환, 뇌전증, 근육질환, 신경섬유종, [신경발달장애 클리닉], [두통 및 어지러움 클리닉], [희귀질환 유전자 클리닉]
- [전문진료]
가족을 만나는 마음으로 환자를 대하겠습니다.
병원에 내원하시는 환자 한분 한분들께 제 가족을 치료하는 마음으로 관심을 갖고 최선을 다하여 진료하겠습니다.
논문
- 1. Lee CG, Ki CS. 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. 2021;41(3):350-3.
2. Lee WW, Choi JM, Lee CG. Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics. J Genet Med. 2020;17(1):34-8.
3. Lee CG, Seol CA, Ki CS. 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;182(11):2788-92.
4. Lee CG, Kang K, Yoon RG, Seo JY, Park JM. 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. 2020;63(4):103781.
5. Lee CG, Kwon O. 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;25(2):207-10.
6. Lee D, Jang JH, Lee CG. Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys). J Genet Med. 2019;16(1):27-30.
7. Lee CG, Jang JH, Seo JY. 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;24(4):253-6.
8. Lee CG, Lee J, Lee M. Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. PLoS One. 2018;13(6):e0199321.
9. Lee CG, Jang J, Jin HS. A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. Mol Med Rep. 2018;17(6):7611-7.
10. Jang MJ, Lee CG, Kim HJ. Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea. J Genet Med. 2018;15(2):110-4.
11. Hong S, Lee CG. 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;15(1):24-7.
12. Kim J, Lee CG. Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family. Ann Clin Lab Sci. 2017;47(2):229-35.
13. Jin HS, Kim J, Kwak W, Jeong H, Lim GB, Lee CG. Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies. PLoS One. 2017;12(1):e0169226.
14. Shin EH, Cho E, Lee CG. 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;38(7):669-73.
15. Lee CG, Cho E, Ahn YM. Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication. Eur J Med Genet. 2016;59(4):210-4.
16. Choi JY, Yun HH, Lee CG. Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea. J Genet Med. 2016;13(1):20-5.
17. Lee CG, Lee B, Lee J, Lee M. The natural course of clinically isolated syndrome in pediatric patients. Brain Dev. 2015;37(4):432-8.
18. Cha H, Lee CG. A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. Am J Med Genet A. 2015;167a(1):198-203.
19. Choi J, Lee H, Lee CG. Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation. Am J Med Genet A. 2015;167a(8):1859-64.
20. Lee CG, Kim JH, Lee M, Lee J. Clinical outcome of acute necrotizing encephalopathy in related to involving the brain stem of single institution in Korea. Korean J Pediatr. 2014;57(6):264-70.
21. Yu HJ, Lee CG, Nam SH, Lee J, Lee M. Clinical and ictal characteristics of infantile seizures: EEG correlation via long-term video EEG monitoring. Brain Dev. 2013;35(8):771-7.
22. Sohn YB, Lee CG, Ko JM, Yang JA, Yun JN, Jung EJ, et al. 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;58(2):73-7.
23. Lee CG, Yun JN, Park SJ, Sohn YB. Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH. J Genet Med. 2013;10(1):52-6.
24. Lee CG, Park SJ, Yun JN, Ko JM, Kim HJ, Yim SY, et al. 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;54(6):1463-70.
25. Lee CG, Park SJ, Yim SY, Sohn YB. Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. Brain Dev. 2013;35(7):681-5.
26. Lee CG, Kwon MJ, Yu HJ, Nam SH, Lee J, Ki CS, et al. Clinical features and genetic analysis of children with hyperekplexia in Korea. J Child Neurol. 2013;28(1):90-4.
27. Nam SH, Kwon MJ, Lee J, Lee CG, Yu HJ, Ki CS, et al. Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. Ann Clin Lab Sci. 2012;42(1):65-72.
28. Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB. Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome. J Korean Med Sci. 2012;27(12):1586-90.
29. Kim JY, Lee CG, Yu HJ, Nam SH, Lee J, Lee M. The efficacy and tolerability of rufinamide in intractable pediatric epilepsy. J Epilepsy Res. 2012;2(2):33-7.
30. Yu HJ, Lee CG, Lee J, Shin HJ, Lee M. Clinical Manifestations of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Patients. J Korean Epilepsy Soc. 2011;15(1):24-30.
31. Yoo HS, Kim MJ, Kang JM, Lee CG, Kim JK, Ahn SY, et al. Pulmonary Hypertension Secondary to Bronchopulmonary Dysplasia in Very Low Birth Weight Infants (<1,500 g). J Korean Soc Neonatol. 2011;18(1):96-103.
32. Nam SH, Lee BL, Lee CG, Yu HJ, Joo EY, Lee J, et al. The role of ketogenic diet in the treatment of refractory status epilepticus. Epilepsia. 2011;52(11):e181-4.
33. Lee OJ, Yu Hj, Lee CG, Nam SH, Lee BL, Lee J, et al. Successful Desensitization of Oxcarbazepine: First Case in Pediatric Patient. J Korean Child Neurol Soc. 2011;19(3):262-5.
34. Kim HS, Lee J, Lee CG, Nam SH, Eo H, Kim JH, et al. Early Diagnosis of Perinatal Ischemic Stroke Based on Clinical and Radiological Characteristics. J Korean Child Neurol Soc. 2011;19(2):131-41.
35. Lee CG, Kang SH, Kim YJ, Shin HJ, Choi HS, Lee JH, et al. Brain abscess in Korean children: A 15-year single center study. Korean J Pediatr. 2010;53(5):648-52.
36. Lee CG, Jeong SI, Huh J, Kang IS, Lee HJ, Yang JH, et al. Surgical outcome of severe pulmonary arterial hypertension secondary to left-to-right shunt lesions. Korean J Pediatr. 2010;53(2):195-202.
37. Kim MJ, Yu HJ, Lee CG, Park SK, Chang YS, Park WS. A case of pulmonary vascular air embolism in a very-low-birth-weight infant with massive hydrops. Korean J Pediatr. 2009;52(12):1392-5.
