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Microfluidic device with brain extracellular matrix promotes structural and functional maturation of human brain organoids

Nature communications, 2021-08, Vol.12 (1), p.4730-4730, Article 4730

2021

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Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Nature medicine, 2015-04, Vol.21 (4), p.395-400

2015

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The use of technical replication for detection of low-level somatic mutations in next-generation sequencing

Nature communications, 2019-03, Vol.10 (1), p.1047-1047, Article 1047

2019

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Efficacy of the classic ketogenic and the modified Atkins diets in refractory childhood epilepsy

Epilepsia (Copenhagen), 2016-01, Vol.57 (1), p.51-58

2016

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Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy

Epilepsia (Copenhagen), 2024-03, Vol.65 (3), p.766-778

2024

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Precise detection of low-level somatic mutation in resected epilepsy brain tissue

Acta neuropathologica, 2019-12, Vol.138 (6), p.901-912

2019

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Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination

Neuron (Cambridge, Mass.), 2018-07, Vol.99 (1), p.83-97.e7

2018

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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

American journal of human genetics, 2017-03, Vol.100 (3), p.454-472

2017

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BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors

Nature medicine, 2018-11, Vol.24 (11), p.1662-1668

2018

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A decrease in the incidence of encephalitis in South Korea during the COVID‐19 pandemic: A nationwide study between 2010 and 2021

Journal of medical virology, 2023-02, Vol.95 (2), p.e28490-n/a

2023

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Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy

The Journal of clinical investigation, 2019-10, Vol.129 (10), p.4207-4223

2019

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25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome

Nature communications, 2016-10, Vol.7 (1), p.13129-13129, Article 13129

2016

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Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome

Epilepsia (Copenhagen), 2021-07, Vol.62 (7), p.1656-1664

2021

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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

Scientific reports, 2023-09, Vol.13 (1), p.14369-14369, Article 14369

2023

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Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development

PLoS genetics, 2022-09, Vol.18 (9), p.e1010404-e1010404

2022

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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

Brain & development (Tokyo. 1979), 2020-06, Vol.42 (6), p.438-448

2020

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Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

Acta neuropathologica communications, 2021-01, Vol.9 (1), p.3-3, Article 3

2021

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Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery

Epilepsia (Copenhagen), 2011-04, Vol.52 (4), p.722-727

2011

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Treatment strategies for Lennox-Gastaut syndrome: outcomes of multimodal treatment approaches

Therapeutic advances in neurological disorders, 2022, Vol.15, p.175628642211080-17562864221108012

2022

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The phenotype and treatment of SCN2A‐related developmental and epileptic encephalopathy

Epileptic disorders, 2020-10, Vol.22 (5), p.563-570

2020

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Clinical characteristics of KCNQ2 encephalopathy

Brain & development (Tokyo. 1979), 2021-02, Vol.43 (2), p.244-250

2021

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The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy

Frontiers in neurology, 2018-07, Vol.9, p.530-530

2018

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Rufinamide efficacy and safety in children aged 1–4 years with Lennox–Gastaut syndrome

Brain & development (Tokyo. 1979), 2018-11, Vol.40 (10), p.897-903

2018

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Low glycemic index treatment in patients with drug-resistant epilepsy

Brain & development (Tokyo. 1979), 2017-09, Vol.39 (8), p.687-692

2017

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Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients

Annals of neurology, 2011-09, Vol.70 (3), p.402-409

2011

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Microfluidic device with brain extracellular matrix promotes structural and functional maturation of human brain organoids

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

The use of technical replication for detection of low-level somatic mutations in next-generation sequencing

Efficacy of the classic ketogenic and the modified Atkins diets in refractory childhood epilepsy

Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy

Precise detection of low-level somatic mutation in resected epilepsy brain tissue

Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors

A decrease in the incidence of encephalitis in South Korea during the COVID‐19 pandemic: A nationwide study between 2010 and 2021

Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy

25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome

Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome

Long-term efficacy and safety of adjunctive perampanel in pediatric patients aged 4–19 years with epilepsy: a real-world study

Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery

Treatment strategies for Lennox-Gastaut syndrome: outcomes of multimodal treatment approaches

The phenotype and treatment of SCN2A‐related developmental and epileptic encephalopathy

Clinical characteristics of KCNQ2 encephalopathy

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy

Rufinamide efficacy and safety in children aged 1–4 years with Lennox–Gastaut syndrome

Low glycemic index treatment in patients with drug-resistant epilepsy

Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients

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