Jong-Hee Chae

Jong-Hee Chae

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Jong-Hee Chae

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Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.

Muscle Nerve 2019 Dec 30;60(6):668-672. Epub 2019 Sep 30.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1002/mus.26700DOI Listing
December 2019

Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies.

Seizure 2019 Oct 31;71:222-228. Epub 2019 Jul 31.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea; Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.07.024DOI Listing
October 2019

Dynamics of driftless preconcentration using ion concentration polarization leveraged by convection and diffusion.

Lab Chip 2019 Oct 2;19(19):3190-3199. Epub 2019 Sep 2.

Department of Electrical and Computer Engineering, Seoul National University, Seoul, 08826, Republic of Korea. and Nano Systems Institute, Seoul National University, Seoul, 08826, South Korea and Inter-University Semiconductor Research Center, Seoul National University, Seoul, 08826, South Korea.

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http://dx.doi.org/10.1039/c9lc00508kDOI Listing
October 2019

Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children.

J Clin Neurol 2019 Oct;15(4):496-501

Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2019.15.4.496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785459PMC
October 2019

Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus.

J Clin Neurol 2019 Oct;15(4):555-563

Department of Microbiology, Brain Korea 21 Plus Project for Medical Science, Severance Biomedical Science Institute and Institute for Immunology and Immunological Diseases, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2019.15.4.555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785474PMC
October 2019

Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation.

J Mov Disord 2019 Sep 17;12(3):190-191. Epub 2019 Jul 17.

Department of Neurology, Movement Disorder Center, Parkinson Study Group, Neuroscience Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.14802/jmd.19016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763713PMC
September 2019

Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases.

Neuromuscul Disord 2019 Sep 19;29(9):684-692. Epub 2019 Jun 19.

Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966193019
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http://dx.doi.org/10.1016/j.nmd.2019.06.010DOI Listing
September 2019

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Front Neurol 2019 13;10:988. Epub 2019 Sep 13.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.

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http://dx.doi.org/10.3389/fneur.2019.00988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753218PMC
September 2019

Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis.

Brain Dev 2019 Aug 5;41(7):634-637. Epub 2019 Apr 5.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.03.013DOI Listing
August 2019

Satellite lesions of DNET: implications for seizure and tumor control after resection.

J Neurooncol 2019 Jul 3;143(3):437-445. Epub 2019 May 3.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

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http://dx.doi.org/10.1007/s11060-019-03174-3DOI Listing
July 2019

A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome.

J Clin Neurol 2019 Jul;15(3):407-409

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2019.15.3.407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6620444PMC
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Case study of an inborn error manifested in the elderly: A woman with adult-onset mitochondrial disease mimicking systemic vasculitis.

Int J Rheum Dis 2019 Jun 10;22(6):1152-1156. Epub 2019 Apr 10.

Division of Rheumatology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea.

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http://dx.doi.org/10.1111/1756-185X.13575DOI Listing
June 2019

Erratum: Correction of Error in Result: Urological Problems in Patients with Menkes Disease.

J Korean Med Sci 2019 May 27;34(20):e154. Epub 2019 May 27.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2019.34.e154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535402PMC
May 2019

Antiepileptic Drug Withdrawal after Surgery in Children with Focal Cortical Dysplasia: Seizure Recurrence and Its Predictors.

J Clin Neurol 2019 Jan;15(1):84-89

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2019.15.1.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325372PMC
January 2019

Urological Problems in Patients with Menkes Disease.

J Korean Med Sci 2019 Jan 26;34(1):e4. Epub 2018 Dec 26.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

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https://synapse.koreamed.org/DOIx.php?id=10.3346/jkms.2019.3
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http://dx.doi.org/10.3346/jkms.2019.34.e4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318444PMC
January 2019

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

Genes Genomics 2018 12 25;40(12):1269-1277. Epub 2018 Aug 25.

Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.

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http://dx.doi.org/10.1007/s13258-018-0721-1DOI Listing
December 2018

dCas9-mediated Nanoelectrokinetic Direct Detection of Target Gene for Liquid Biopsy.

Nano Lett 2018 12 27;18(12):7642-7650. Epub 2018 Nov 27.

Inter-university Semiconductor Research Center , Seoul National University , Seoul 08826 , Republic of Korea.

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http://pubs.acs.org/doi/10.1021/acs.nanolett.8b03224
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http://dx.doi.org/10.1021/acs.nanolett.8b03224DOI Listing
December 2018

Clinical Experience with Perampanel in Intractable Focal Epilepsy Over 12 Months of Follow-Up.

J Epilepsy Res 2018 Dec 31;8(2):61-65. Epub 2018 Dec 31.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

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http://j-epilepsy.org/journal/view.php?doi=10.14581/jer.1801
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http://dx.doi.org/10.14581/jer.18010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374530PMC
December 2018

Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.

Prenat Diagn 2018 10 29;38(11):835-840. Epub 2018 Aug 29.

Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, South Korea.

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http://dx.doi.org/10.1002/pd.5337DOI Listing
October 2018

Paroxysmal Dyskinesia in Children: from Genes to the Clinic.

J Clin Neurol 2018 Oct 12;14(4):492-497. Epub 2018 Jul 12.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2018.14.4.492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172489PMC
October 2018

Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.

Muscle Nerve 2018 09;58(3):381-388

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro Jongno-gu, Seoul, Korea, 110-744.

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http://dx.doi.org/10.1002/mus.26093DOI Listing
September 2018

Spike persistence and normalization in benign epilepsy with centrotemporal spikes - Implications for management.

Brain Dev 2018 Sep 10;40(8):693-698. Epub 2018 May 10.

Pediatric Regional Epilepsy Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Neurology, Perelman School of Medicine, University of Philadelphia, Philadelphia, PA, United States.

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http://dx.doi.org/10.1016/j.braindev.2018.04.011DOI Listing
September 2018

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

Ann Lab Med 2018 Sep;38(5):473-480

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2018.38.5.473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973923PMC
September 2018

A 3-Month-Old Boy With Progressive Weakness.

Brain Pathol 2018 09;28(5):773-774

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

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http://doi.wiley.com/10.1111/bpa.12651
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http://dx.doi.org/10.1111/bpa.12651DOI Listing
September 2018

Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial Mutation in a Family.

Ann Clin Lab Sci 2018 07;48(4):546-548

Department of Pediatrics, Pediatric Neuroscience Center, Seoul National University Children's Hospital.

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July 2018

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.

Sci Rep 2018 06 6;8(1):8678. Epub 2018 Jun 6.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.1038/s41598-018-26941-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989205PMC
June 2018

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.

Brain Dev 2018 May 8;40(5):429-432. Epub 2018 Feb 8.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.01.006DOI Listing
May 2018

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Brain Dev 2018 May 10;40(5):383-390. Epub 2018 Feb 10.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183002
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http://dx.doi.org/10.1016/j.braindev.2018.01.009DOI Listing
May 2018

Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant.

Parkinsonism Relat Disord 2018 05 9;50:124-125. Epub 2018 Feb 9.

Department of Neurology and Movement Disorder Center, Parkinson Study Group, Neuroscience Research Institute, College of Medicine, Seoul National University, 101 Daehakro, Jongno-gu, Seoul, 03080, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.02.012DOI Listing
May 2018

Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia.

Epilepsy Res 2018 01 27;139:54-59. Epub 2017 Nov 27.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.11.012DOI Listing
January 2018

A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus.

J Epilepsy Res 2017 Dec 31;7(2):118-120. Epub 2017 Dec 31.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.14581/jer.17019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767489PMC
December 2017

Extensive brain infarction involving deep structures during an acetazolamide-challenged single-photon emission computed tomography scan in a patient with moyamoya disease.

Childs Nerv Syst 2017 Nov 8;33(11):2029-2033. Epub 2017 Jul 8.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

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http://dx.doi.org/10.1007/s00381-017-3512-0DOI Listing
November 2017

Coexistence of Radiation-Induced Meningioma and Moyamoya Syndrome 10 Years after Irradiation against Medulloblastoma: a Case Report.

J Korean Med Sci 2017 Nov;32(11):1896-1902

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2017.32.11.1896DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639076PMC
November 2017

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Brain Dev 2017 Oct 28;39(9):799-803. Epub 2017 Jun 28.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.04.020DOI Listing
October 2017

Findings of a 1303 Korean whole-exome sequencing study.

Exp Mol Med 2017 07 14;49(7):e356. Epub 2017 Jul 14.

Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.1038/emm.2017.142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565953PMC
July 2017

Factors Associated with Favorable Outcome of Topiramate Migraine Prophylaxis in Pediatric Patients.

J Clin Neurol 2017 Jul;13(3):281-286

Pediatric Clinical Neuroscience Center, Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2017.13.3.281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532325PMC
July 2017

The Case | An unusual case of recurrent hypokalemic periodic paralysis.

Kidney Int 2017 06;91(6):1523-1524

Division of Nephrology, Department of Internal Medicine, Wonkwang University College of Medicine, Iksan, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2016.11.001DOI Listing
June 2017

eIF2B-related multisystem disorder in two sisters with atypical presentations.

Eur J Paediatr Neurol 2017 Mar 18;21(2):404-409. Epub 2016 Jul 18.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.07.010DOI Listing
March 2017

Orthopedic Manifestations of Type I Camurati-Engelmann Disease.

Clin Orthop Surg 2017 Mar 13;9(1):109-115. Epub 2017 Feb 13.

Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.4055/cios.2017.9.1.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334020PMC
March 2017

A compound heterozygous mutation in the gene: the first pediatric case causes fish odor syndrome in Korea.

Korean J Pediatr 2017 Mar 27;60(3):94-97. Epub 2017 Mar 27.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2017.60.3.
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http://dx.doi.org/10.3345/kjp.2017.60.3.94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383638PMC
March 2017

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

J Child Neurol 2017 02 24;32(2):237-242. Epub 2016 Oct 24.

3 Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1177/0883073816674095DOI Listing
February 2017

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

Epilepsy Res 2017 01 2;129:118-124. Epub 2016 Dec 2.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Jongro-Gu, Daehak-ro 101, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.11.022DOI Listing
January 2017

Averaged EEG spike dipole analysis may predict atypical outcome in Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS).

Brain Dev 2016 Nov 18;38(10):903-908. Epub 2016 Jun 18.

Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.braindev.2016.06.001DOI Listing
November 2016

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Am J Med Genet A 2016 11 13;170(11):3023-3027. Epub 2016 Jul 13.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1002/ajmg.a.37846DOI Listing
November 2016

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

Am J Med Genet A 2016 08 27;170(8):2200-5. Epub 2016 May 27.

Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.1002/ajmg.a.37773DOI Listing
August 2016

Prevalence of antineuronal antibodies in patients with encephalopathy of unknown etiology: Data from a nationwide registry in Korea.

J Neuroimmunol 2016 Apr 21;293:34-38. Epub 2016 Feb 21.

Department of Neurology, Laboratory of Neurotherapeutics, Seoul National University Hospital, Seoul, South Korea; Program in Neuroscience, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2016.02.002DOI Listing
April 2016

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome.

J Clin Neurol 2016 Apr;12(2):181-7

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2016.12.2.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828564PMC
April 2016

Home mechanical ventilation in childhood-onset hereditary neuromuscular diseases: 13 years' experience at a single center in Korea.

PLoS One 2015 30;10(3):e0122346. Epub 2015 Mar 30.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea; Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0122346PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4379105PMC
March 2016

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

J Hum Genet 2016 Mar 5;61(3):235-9. Epub 2015 Nov 5.

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1038/jhg.2015.135DOI Listing
March 2016

Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications.

J Mol Diagn 2016 Mar 29;18(2):253-9. Epub 2015 Dec 29.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2015.11.002DOI Listing
March 2016

A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.

Neuromuscul Disord 2015 Nov 11;25(11):843-51. Epub 2015 Aug 11.

Department of Biomedical Sciences, Chonnam National University Medical School, Gwangju, Republic of Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966150069
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http://dx.doi.org/10.1016/j.nmd.2015.08.002DOI Listing
November 2015

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Gene 2015 Sep 30;569(2):318-22. Epub 2015 Apr 30.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.075DOI Listing
September 2015

Hemophagocytic lymphohistiocytosis diagnosed by brain biopsy.

Korean J Pediatr 2015 Sep 21;58(9):358-61. Epub 2015 Sep 21.

Department of Pediatrics, Cancer Research Institute, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2015.58.9.358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623456PMC
September 2015

Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.

Clin Chem 2015 Jun 6;61(6):829-37. Epub 2015 Apr 6.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea; Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, Korea;

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http://www.clinchem.org/content/61/6/829.full.pdf
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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2014.236380
Publisher Site
http://dx.doi.org/10.1373/clinchem.2014.236380DOI Listing
June 2015

Pediatric Stroke.

J Korean Neurosurg Soc 2015 Jun 30;57(6):396-400. Epub 2015 Jun 30.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3340/jkns.2015.57.6.396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502234PMC
June 2015

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Brain Dev 2015 Apr 6;37(4):402-8. Epub 2014 Aug 6.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.07.007DOI Listing
April 2015

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

J Med Genet 2015 Mar 29;52(3):208-16. Epub 2015 Jan 29.

Seattle Children's Research Institute, Seattle, Washington, USA Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102819DOI Listing
March 2015

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.

Brain Dev 2015 Feb 29;37(2):223-9. Epub 2014 May 29.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.04.012DOI Listing
February 2015

Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.

Child Neurol Open 2015 Jan-Mar;2(1):2329048X14568151. Epub 2015 Feb 10.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1177/2329048X14568151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417036PMC
February 2015

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Epilepsy Res 2015 Jan 28;109:34-9. Epub 2014 Oct 28.

Department of Pediatrics, Asan Medical Center Children's hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2014.10.008DOI Listing
January 2015

An adolescent with laminopathy presenting as ventricular tachycardia and left ventricular apical aneurysm.

Eur Heart J Cardiovasc Imaging 2014 Dec 3;15(12):1419. Epub 2014 Sep 3.

Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul 110-744, South Korea.

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http://dx.doi.org/10.1093/ehjci/jeu144DOI Listing
December 2014

Delayed posterior circulation insufficiency in pediatric moyamoya disease.

J Neurol 2014 Dec 12;261(12):2305-13. Epub 2014 Sep 12.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Republic of Korea.

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http://link.springer.com/content/pdf/10.1007/s00415-014-7484
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http://link.springer.com/10.1007/s00415-014-7484-7
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http://dx.doi.org/10.1007/s00415-014-7484-7DOI Listing
December 2014

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

Epileptic Disord 2014 Dec;16(4):449-55

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital.

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http://dx.doi.org/10.1684/epd.2014.0712DOI Listing
December 2014

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

Pediatr Int 2014 Dec;56(6):e88-e91

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1111/ped.12442DOI Listing
December 2014

A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder.

Brain Dev 2014 Sep 5;36(8):734-7. Epub 2013 Nov 5.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, South Korea. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/S038776041300291
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http://dx.doi.org/10.1016/j.braindev.2013.09.009DOI Listing
September 2014

Aquaporin-4 autoimmunity masquerading as a brainstem tumor.

J Neurosurg Pediatr 2014 Sep 11;14(3):301-5. Epub 2014 Jul 11.

Pediatric Clinical Neuroscience Center.

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http://dx.doi.org/10.3171/2014.6.PEDS13674DOI Listing
September 2014

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.

Neurogenetics 2014 Aug 10;15(3):171-82. Epub 2014 May 10.

Division of Intractable Diseases, Center for Biomedical Sciences, National Institute of Health, Osong Health Technology Administration Complex 643, Yeonje-ri, Osong-eup, Cheongwon-gun, Chungcheongbuk-do, 363-951, South Korea.

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http://dx.doi.org/10.1007/s10048-014-0405-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102772PMC
August 2014

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Gene 2014 Aug 7;546(2):425-9. Epub 2014 Jun 7.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.06.011DOI Listing
August 2014

Effectiveness of intravenous levetiracetam as an adjunctive treatment in pediatric refractory status epilepticus.

Pediatr Emerg Care 2014 Aug;30(8):525-8

From the *Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do; and †Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, ‡Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital; and §Department of Pediatrics, SMG-SNU Boramae Medical Center, Seoul, Republic of Korea.

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http://dx.doi.org/10.1097/PEC.0000000000000183DOI Listing
August 2014

Lacosamide as an adjunctive therapy in pediatric patients with refractory focal epilepsy.

Brain Dev 2014 Jun 12;36(6):510-5. Epub 2013 Aug 12.

Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2013.07.003DOI Listing
June 2014

Involuntary movement in pediatric moyamoya disease patients: consideration of pathogenetic mechanism using neuroimaging studies.

Childs Nerv Syst 2014 May 12;30(5):885-90. Epub 2013 Dec 12.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1007/s00381-013-2339-6DOI Listing
May 2014

Electroencephalography in pediatric moyamoya disease: reappraisal of clinical value.

Childs Nerv Syst 2014 Mar 13;30(3):449-59. Epub 2013 Aug 13.

Division of Pediatric Neurology, Department of Pediatrics, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, South Korea.

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http://link.springer.com/content/pdf/10.1007/s00381-013-2215
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http://link.springer.com/10.1007/s00381-013-2215-4
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http://dx.doi.org/10.1007/s00381-013-2215-4DOI Listing
March 2014

A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia.

J Child Neurol 2014 Feb 1;29(2):260-4. Epub 2013 Mar 1.

1Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://journals.sagepub.com/doi/10.1177/0883073813478659
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http://dx.doi.org/10.1177/0883073813478659DOI Listing
February 2014

Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome.

Epilepsy Res 2013 Oct 1;106(3):440-5. Epub 2013 Aug 1.

Department of Neurology, Konkuk University School of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.eplepsyres.2013.06.012DOI Listing
October 2013

Clinical and EEG risk factors for subsequent epilepsy in patients with complex febrile seizures.

Epilepsy Res 2013 Jul 16;105(1-2):158-63. Epub 2013 Mar 16.

Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do, Republic of Korea.

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http://dx.doi.org/10.1016/j.eplepsyres.2013.02.006DOI Listing
July 2013

Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.

Childs Nerv Syst 2013 Apr 12;29(4):525-9. Epub 2013 Feb 12.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1007/s00381-013-2047-2DOI Listing
April 2013

Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.

Neuromuscul Disord 2013 Apr 1;23(4):337-44. Epub 2013 Mar 1.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.nmd.2013.01.007DOI Listing
April 2013

Short-term efficacy and tolerability of rufinamide adjunctive therapy in children with refractory generalised epilepsy.

Epileptic Disord 2013 Mar;15(1):49-54

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea.

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http://dx.doi.org/10.1684/epd.2013.0557DOI Listing
March 2013

Cervical spondylotic myelopathy caused by violent motor tics in a child with Tourette syndrome.

Childs Nerv Syst 2013 Feb 7;29(2):317-21. Epub 2012 Oct 7.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea.

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http://dx.doi.org/10.1007/s00381-012-1939-xDOI Listing
February 2013

Comparison of flunarizine and topiramate for the prophylaxis of pediatric migraines.

Eur J Paediatr Neurol 2013 Jan 27;17(1):45-9. Epub 2012 Oct 27.

Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do, Republic of Korea.

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http://dx.doi.org/10.1016/j.ejpn.2012.10.001DOI Listing
January 2013

A case of isodicentric chromosome 15 presented with epilepsy and developmental delay.

Korean J Pediatr 2012 Dec 20;55(12):487-90. Epub 2012 Dec 20.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2012.55.12.487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534163PMC
December 2012

Development of korean rare disease knowledge base.

Healthc Inform Res 2012 Dec 31;18(4):272-8. Epub 2012 Dec 31.

Seoul National University Biomedical Informatics (SNUBI), Division of Biomedical Informatics, Seoul National University College of Medicine, Seoul, Korea. ; Systems Biomedical Informatics Research Center, Seoul National University, Seoul, Korea.

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http://dx.doi.org/10.4258/hir.2012.18.4.272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548157PMC
December 2012