Search Results - "Kang, Hoon Chul"
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Microfluidic device with brain extracellular matrix promotes structural and functional maturation of human brain organoids
Published in Nature communications (05-08-2021)“…Brain organoids derived from human pluripotent stem cells provide a highly valuable in vitro model to recapitulate human brain development and neurological…”
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The use of technical replication for detection of low-level somatic mutations in next-generation sequencing
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…”
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Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
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…”
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4
Efficacy of the classic ketogenic and the modified Atkins diets in refractory childhood epilepsy
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…”
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5
Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy
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…”
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Precise detection of low-level somatic mutation in resected epilepsy brain tissue
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…”
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Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination
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…”
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BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors
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…”
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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
Published in American journal of human genetics (02-03-2017)“…Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been…”
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Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy
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…”
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25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome
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…”
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Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome
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…”
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13
A decrease in the incidence of encephalitis in South Korea during the COVID‐19 pandemic: A nationwide study between 2010 and 2021
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…”
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Long-term efficacy and safety of adjunctive perampanel in pediatric patients aged 4–19 years with epilepsy: a real-world study
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%…”
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Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development
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…”
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Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Published in Acta neuropathologica communications (06-01-2021)“…Focal malformations of cortical development (MCD) are linked to somatic brain mutations occurring during neurodevelopment. Mild malformation of cortical…”
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Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome
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…”
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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy
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…”
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Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery
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…”
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The phenotype and treatment of SCN2A‐related developmental and epileptic encephalopathy
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…”
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