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

by Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Published 2017-03-01

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

by Dallah Yoo, Han-Joon Kim, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
Published 2019-09-01

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

by Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
Published 2010-06-01

Pediatric Miller Fisher Syndrome; Characteristic Presentation and Comparison with Adult Miller Fisher Syndrome

by Yeonji Jang, Jae-Hwan Choi, Jong Hee Chae, Byung Chan Lim, Seong-Joon Kim, Jae Ho Jung
Published 2020-12-01

Short Course and Early Switch of Vigabatrin for Infantile spasms

by Hye Won Ryu, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Ji Eun Choi, Ki Joong Kim
Published 2020-07-01

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

by Young Joo Han, June Dong Park, Bongjin Lee, Yu Hyeon Choi, Dong In Suh, Byung Chan Lim, Jong-Hee Chae
Published 2015-01-01

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

by Soo Yeon Kim, YoungKyu Shim, Young Joon Ko, Soojin Park, Se Song Jang, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae
Published 2020-12-01

Deep Phenotyping in 1p36 Deletion Syndrome

by Youngkyu Shim, Young Jun Go, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jieun Choi, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae
Published 2020-10-01

A case of Becker muscular dystrophy with early manifestation of cardiomyopathy

by Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae
Published 2012-09-01

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

by Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae
Published 2021-06-01

Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

by Jieun Choi, Sun Ah Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Sohee Oh, Jeon-Soo Shin
Published 2019-06-01

Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?

by Jieun Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Sohee Oh, Eun Young Kim, Jeon-Soo Shin
Published 2020-03-01

Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population

by Woo Joong Kim, Young Kyu Shim, Young Jun Ko, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae
Published 2021-04-01

The Efficacy and Safety of Rituximab for the Treatment of Pediatric Autoimmune Neuroinflammatory Disorders at a Single Center

by Young Jun Ko, Young Kyu Shim, Woo Joong Kim, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong-Hee Chae, Ji Eun Choi, Ki Joong Kim, Byung Chan Lim
Published 2020-01-01

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

by Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Jong-Il Kim, Jong-Il Kim, Byung Chan Lim
Published 2019-09-01

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

by Christine K. Byun, Jin Sook Lee MD, Byung Chan Lim MD, Ki Joong Kim MD, PhD, Yong Seung Hwang MD, PhD, Jong-Hee Chae MD, PhD
Published 2015-03-01

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

by Jon Soo Kim, Jinyu Park, Byung-Joo Min, Sun Kyung Oh, Jin Sun Choi, Mi Jung Woo, Jong-Hee Chae, Ki Joong Kim, Yong Seung Hwang, Byung Chan Lim
Published 2012-12-01

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy

by Jieun Seo, Cho‐Rong Lee, Jin Chul Paeng, Hyun W. Kwon, Duckgue Lee, Soon‐Chan Kim, Jaeseok Han, Ja‐Lok Ku, Jong Hee Chae, Byung Chan Lim, Murim Choi
Published 2020-08-01

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

by Sangmoon Lee, Jihae Seo, Jinman Park, Jae-Yong Nam, Ahyoung Choi, Jason S. Ignatius, Robert D. Bjornson, Jong-Hee Chae, In-Jin Jang, Sanghyuk Lee, Woong-Yang Park, Daehyun Baek, Murim Choi
Published 2017-06-01

Hemophagocytic lymphohistiocytosis diagnosed by brain biopsy

by Hee Young Ju, Che Ry Hong, Sung Jin Kim, Ji Won Lee, Hyery Kim, Hyoung Jin Kang, Kyung Duk Park, Hee Young Shin, Jong-Hee Chae, Ji Hoon Phi, Jung-Eun Cheon, Sung-Hye Park, Hyo Seop Ahn
Published 2015-09-01