Search Results - "Kang, Hoon Chul"

Refine Results
  1. 1
  2. 2

    The use of technical replication for detection of low-level somatic mutations in next-generation sequencing by Kim, Junho, Kim, Dachan, Lim, Jae Seok, Maeng, Ju Heon, Son, Hyeonju, Kang, Hoon-Chul, Nam, Hojung, Lee, Jeong Ho, Kim, Sangwoo

    Published in Nature communications (05-03-2019)
    “…Accurate genome-wide detection of somatic mutations with low variant allele frequency (VAF, <1%) has proven difficult, for which generalized, scalable methods…”
    Get full text
    Journal Article
  3. 3

    Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy by Lim, Jae Seok, Kim, Woo-il, Kang, Hoon-Chul, Kim, Se Hoon, Park, Ah Hyung, Park, Eun Kyung, Cho, Young-Wook, Kim, Sangwoo, Kim, Ho Min, Kim, Jeong A, Kim, Junho, Rhee, Hwanseok, Kang, Seok-Gu, Kim, Heung Dong, Kim, Daesoo, Kim, Dong-Seok, Lee, Jeong Ho

    Published in Nature medicine (01-04-2015)
    “…Deep sequencing identifies somatic activating mutations of MTOR in affected brain regions of FCDII patients that are sufficient to cause neuronal migration…”
    Get full text
    Journal Article
  4. 4

    Efficacy of the classic ketogenic and the modified Atkins diets in refractory childhood epilepsy by Kim, Jeong A, Yoon, Jung‐Rim, Lee, Eun Joo, Lee, Joon Soo, Kim, Jeong Tae, Kim, Heung Dong, Kang, HoonChul

    Published in Epilepsia (Copenhagen) (01-01-2016)
    “…Summary Objective We aimed to compare the efficacy, safety, and tolerability of a modified Atkins diet (MAD) with the classic ketogenic diet (KD) for the…”
    Get full text
    Journal Article
  5. 5

    Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy by Kim, Se Hee, Seo, Jieun, Kwon, Soon Sung, Teng, Lip‐Yuen, Won, DongJu, Shin, Saeam, Lee, Joon Soo, Lee, Seung‐Tae, Choi, Jong Rak, Kang, HoonChul

    Published in Epilepsia (Copenhagen) (01-03-2024)
    “…Objective We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes and…”
    Get full text
    Journal Article
  6. 6

    Precise detection of low-level somatic mutation in resected epilepsy brain tissue by Sim, Nam Suk, Ko, Ara, Kim, Woo Kyeong, Kim, Se Hoon, Kim, Ju Seong, Shim, Kyu-Won, Aronica, Eleonora, Mijnsbergen, Caroline, Spliet, Wim G. M., Koh, Hyun Yong, Kim, Heung Dong, Lee, Joon Soo, Kim, Dong Seok, Kang, Hoon-Chul, Lee, Jeong Ho

    Published in Acta neuropathologica (01-12-2019)
    “…Low-level somatic mutations have been shown to be the major genetic etiology of intractable epilepsy. The extents thereof, however, have yet to be…”
    Get full text
    Journal Article
  7. 7

    Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination by Park, Sang Min, Lim, Jae Seok, Ramakrishina, Suresh, Kim, Se Hoon, Kim, Woo Kyeong, Lee, Junehawk, Kang, Hoon-Chul, Reiter, Jeremy F., Kim, Dong Seok, Kim, Hyongbum (Henry), Lee, Jeong Ho

    Published in Neuron (Cambridge, Mass.) (11-07-2018)
    “…Focal malformations of cortical development (FMCDs), including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are major etiologies of pediatric…”
    Get full text
    Journal Article
  8. 8

    BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors by Koh, Hyun Yong, Kim, Se Hoon, Jang, Jaeson, Kim, Hyungguk, Han, Sungwook, Lim, Jae Seok, Son, Geurim, Choi, Junjeong, Park, Byung Ouk, Heo, Won Do, Han, Jinju, Lee, Hyunjoo Jenny, Lee, Daeyoup, Kang, Hoon-Chul, Shong, Minho, Paik, Se-Bum, Kim, Dong Seok, Lee, Jeong Ho

    Published in Nature medicine (01-11-2018)
    “…Pediatric brain tumors are highly associated with epileptic seizures 1 . However, their epileptogenic mechanisms remain unclear. Here, we show that the…”
    Get full text
    Journal Article
  9. 9
  10. 10

    Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy by Kim, Jang Keun, Cho, Jun, Kim, Se Hoon, Kang, Hoon-Chul, Kim, Dong-Seok, Kim, V Narry, Lee, Jeong Ho

    Published in The Journal of clinical investigation (01-10-2019)
    “…Brain somatic mutations confer genomic diversity in the human brain and cause neurodevelopmental disorders. Recently, brain somatic activating mutations in…”
    Get full text
    Journal Article
  11. 11

    25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome by Jang, Jiho, Park, Sangjun, Jin Hur, Hye, Cho, Hyun-Ju, Hwang, Inhwa, Pyo Kang, Yun, Im, Isak, Lee, Hyunji, Lee, Eunju, Yang, Wonsuk, Kang, Hoon-Chul, Won Kwon, Sung, Yu, Je-Wook, Kim, Dong-Wook

    Published in Nature communications (25-10-2016)
    “…X-linked adrenoleukodystrophy (X-ALD), caused by an ABCD1 mutation, is a progressive neurodegenerative disorder associated with the accumulation of very…”
    Get full text
    Journal Article
  12. 12

    Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome by Choi, Han Som, Ko, Ara, Kim, Se Hee, Lee, Seung‐Tae, Choi, Jong Rak, Lee, Joon Soo, Kim, Heung Dong, Kang, HoonChul

    Published in Epilepsia (Copenhagen) (01-07-2021)
    “…Objective It has been known that West syndrome (WS) patients with an unknown etiology have better clinical outcomes than patients with an identified etiology…”
    Get full text
    Journal Article
  13. 13

    A decrease in the incidence of encephalitis in South Korea during the COVID‐19 pandemic: A nationwide study between 2010 and 2021 by Kim, Se Hee, Baek, Jee Yeon, Han, Minkyung, Lee, Myeongjee, Lim, Sung Min, Lee, Ji Young, Kang, Ji‐Man, Jung, Inkyung, Kang, HoonChul, Ahn, Jong Gyun

    Published in Journal of medical virology (01-02-2023)
    “…Limited data are available on the impact of the coronavirus disease (COVID‐19) pandemic on encephalitis. Therefore, we evaluated trends in encephalitis in…”
    Get full text
    Journal Article
  14. 14

    Long-term efficacy and safety of adjunctive perampanel in pediatric patients aged 4–19 years with epilepsy: a real-world study by Youn, Song Ee, Kang, Hoon-Chul, Lee, Joon Soo, Kim, Heung Dong, Kim, Se Hee

    Published in Scientific reports (01-09-2023)
    “…This study determined the 24-month outcomes of perampanel treatment in children and adolescents with epilepsy. The percentage of ≥ 50% responders was 47.3%…”
    Get full text
    Journal Article
  15. 15

    Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development by Kim, Ja Hye, Hwang, Shinwon, Son, Hyeonju, Kim, Dongsun, Kim, Il Bin, Kim, Myeong-Heui, Sim, Nam Suk, Kim, Dong-Seok, Ha, Yoo-Jin, Lee, Junehawk, Kang, Hoon-Chul, Lee, Jeong Ho, Kim, Sangwoo

    Published in PLoS genetics (19-09-2022)
    “…Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and…”
    Get full text
    Journal Article
  16. 16
  17. 17

    Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome by Kang, Joon Won, Eom, Soyong, Hong, William, Kwon, Hye Eun, Park, Soyoung, Ko, Ara, Kang, Hoon-Chul, Lee, Joon Soo, Lee, Young-Mock, Kim, Dong Seok, Kim, Heung Dong

    Published in Pediatrics (Evanston) (01-10-2018)
    “…We aimed to evaluate the long-term outcome of resective epilepsy surgery in patients with Lennox-Gastaut syndrome (LGS). We reviewed the case reports of 90…”
    Get full text
    Journal Article
  18. 18

    Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy by Na, Ji-Hoon, Shin, Saeam, Yang, Donghwa, Kim, Borahm, Kim, Heung Dong, Kim, Sehee, Lee, Joon-Soo, Choi, Jong-Rak, Lee, Seung-Tae, Kang, Hoon-Chul

    Published in Brain & development (Tokyo. 1979) (01-06-2020)
    “…Early-onset developmental and epileptic encephalopathy (DEE) is characterized by repeated seizures beginning within 3 months of birth and severe interictal…”
    Get full text
    Journal Article
  19. 19

    Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery by Kim, Yoon Hee, Kang, HoonChul, Kim, Dong‐Seok, Kim, Se Hoon, Shim, Kyu‐Won, Kim, Heung Dong, Lee, Joon Soo

    Published in Epilepsia (Copenhagen) (01-04-2011)
    “…Summary Purpose:  The purpose of this study is to determine the sensibility of each imaging tool in identifying focal cortical dysplasia (FCD) in children and…”
    Get full text
    Journal Article
  20. 20

    The phenotype and treatment of SCN2A‐related developmental and epileptic encephalopathy by Kim, Hyo Jeong, Yang, Donghwa, Kim, Se Hee, Kim, Borahm, Kim, Heung Dong, Lee, Joon Soo, Choi, Jong Rak, Lee, Seung‐Tae, Kang, HoonChul

    Published in Epileptic disorders (01-10-2020)
    “…Aims. We aimed to delineate the phenotypic spectrum of SCN2A‐related developmental and epileptic encephalopathy (DEE) and determine the effectiveness of…”
    Get full text
    Journal Article