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Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia.
- Published in:
- Movement Disorders, 2008, v. 23, n. 4, p. 610, doi. 10.1002/mds.21909
- By:
- Publication type:
- Article
The feasibility of performing multiple burr hole surgery in pediatric moyamoya patients as a response to failed mEDAS.
- Published in:
- Child's Nervous System, 2021, v. 37, n. 7, p. 2233, doi. 10.1007/s00381-021-05093-z
- By:
- Publication type:
- Article
A computational clinical decision-supporting system to suggest effective anti-epileptic drugs for pediatric epilepsy patients based on deep learning models using patient's medical history.
- Published in:
- BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02552-w
- By:
- Publication type:
- Article
25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome.
- Published in:
- Nature Communications, 2016, v. 7, n. 10, p. 13129, doi. 10.1038/ncomms13129
- By:
- Publication type:
- Article
Iron deficiency in children with mitochondrial disease.
- Published in:
- Metabolic Brain Disease, 2010, v. 25, n. 2, p. 185, doi. 10.1007/s11011-010-9196-8
- By:
- Publication type:
- Article
Comparative Proteome Research in a Zebrafish Model for Vanishing White Matter Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2707, doi. 10.3390/ijms22052707
- By:
- Publication type:
- Article
Comparison of temporal lobectomies of children and adults with intractable temporal lobe epilepsy.
- Published in:
- Child's Nervous System, 2010, v. 26, n. 2, p. 177, doi. 10.1007/s00381-009-1015-3
- By:
- Publication type:
- Article
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
- Published in:
- Child's Nervous System, 2007, v. 23, n. 11, p. 1301, doi. 10.1007/s00381-007-0369-7
- By:
- Publication type:
- Article
Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
- Published in:
- Acta Neuropathologica, 2019, v. 138, n. 6, p. 901, doi. 10.1007/s00401-019-02052-6
- By:
- Publication type:
- Article
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-020-01085-3
- By:
- Publication type:
- Article
Population pharmacokinetics of everolimus in patients with seizures associated with focal cortical dysplasia.
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1197549
- By:
- Publication type:
- Article
EEG Characteristics and Diagnostic Implications in Childhood Headache: A Multi-Center Study.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.569486
- By:
- Publication type:
- Article
Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations.
- Published in:
- Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00612
- By:
- Publication type:
- Article
A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Primary central nervous system anaplastic large cell lymphoma presenting initially with meningitis.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Schilder's disease in a young child with tumefactive demyelinating brain lesion.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Psychological Problems and Clinical Outcomes of Children with Psychogenic Non-Epileptic Seizures.
- Published in:
- Yonsei Medical Journal, 2014, v. 55, n. 6, p. 1556, doi. 10.3349/ymj.2014.55.6.1556
- By:
- Publication type:
- Article
Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation.
- Published in:
- Yonsei Medical Journal, 2014, v. 55, n. 4, p. 1157, doi. 10.3349/ymj.2014.55.4.1157
- By:
- Publication type:
- Article
Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation.
- Published in:
- Yonsei Medical Journal, 2014, v. 55, n. 4, p. 1157, doi. 10.3349/ymj.2014.55.4.1157
- By:
- Publication type:
- Article
Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy.
- Published in:
- Yonsei Medical Journal, 2014, v. 55, n. 3, p. 676, doi. 10.3349/ymj.2014.55.3.676
- By:
- Publication type:
- Article
The Genetically Modified Polysialylated Form of Neural Cell Adhesion Molecule-Positive Cells for Potential Treatment of X-Linked Adrenoleukodystrophy.
- Published in:
- Yonsei Medical Journal, 2013, v. 54, n. 1, p. 246, doi. 10.3349/ymj.2013.54.1.246
- By:
- Publication type:
- Article
Genetic and Epileptic Features in Rett Syndrome.
- Published in:
- Yonsei Medical Journal, 2012, v. 53, n. 3, p. 495, doi. 10.3349/ymj.2012.53.3.495
- By:
- Publication type:
- Article
The use of technical replication for detection of low-level somatic mutations in next-generation sequencing.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-09026-y
- By:
- Publication type:
- Article
Evaluation of Algorithms for Intracranial EEG (iEEG) Source Imaging of Extended Sources: Feasibility of Using iEEG Source Imaging for Localizing Epileptogenic Zones in Secondary Generalized Epilepsy.
- Published in:
- Brain Topography, 2011, v. 24, n. 2, p. 91, doi. 10.1007/s10548-011-0173-2
- By:
- Publication type:
- Article
Aetiology and Prognosis of Encephalitis in Korean Children: A Retrospective Single-Centre Study, 2005-2020.
- Published in:
- Yonsei Medical Journal, 2024, v. 65, n. 2, p. 78, doi. 10.3349/ymj.2023.0250
- By:
- Publication type:
- Article
Acute Necrotizing Myelitis Associated with COVID-19.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.
- Published in:
- Yonsei Medical Journal, 2023, v. 64, n. 2, p. 133, doi. 10.3349/ymj.2022.0451
- By:
- Publication type:
- Article
A machine learning-based quantitative model (LogBB_Pred) to predict the blood–brain barrier permeability (logBB value) of drug compounds.
- Published in:
- Bioinformatics, 2023, v. 39, n. 10, p. 1, doi. 10.1093/bioinformatics/btad577
- By:
- Publication type:
- Article
Highly Pure and Expandable PSA-NCAM-Positive Neural Precursors from Human ESC and iPSC-Derived Neural Rosettes.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0039715
- By:
- Publication type:
- Article
Direct Reprogramming of Rat Neural Precursor Cells and Fibroblasts into Pluripotent Stem Cells.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009838
- By:
- Publication type:
- Article
Treatment strategies for Lennox-Gastaut syndrome: outcomes of multimodal treatment approaches.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2022, p. 1, doi. 10.1177/17562864221108012
- By:
- Publication type:
- Article
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, 2023, v. 95, n. 2, p. 1, doi. 10.1002/jmv.28490
- By:
- Publication type:
- Article
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
- Published in:
- BMC Medical Genomics, 2018, v. 11, p. 1, doi. 10.1186/s12920-018-0320-7
- By:
- Publication type:
- Article
Treatment strategies for Lennox-Gastaut syndrome: outcomes of multimodal treatment approaches.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2022, v. 15, p. 1, doi. 10.1177/17562864221108012
- By:
- Publication type:
- Article
Induced pluripotent stem cells for modeling of pediatric neurological disorders.
- Published in:
- Biotechnology Journal, 2014, v. 9, n. 7, p. 871, doi. 10.1002/biot.201400010
- By:
- Publication type:
- Article
Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 4, p. 685, doi. 10.1111/j.1528-1167.2007.01522.x
- By:
- Publication type:
- Article
The Effects on Cognitive Function and Behavioral Problems of Topiramate Compared to Carbamazepine as Monotherapy for Children with Benign Rolandic Epilepsy.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 9, p. 1716, doi. 10.1111/j.1528-1167.2007.01160.x
- By:
- Publication type:
- Article
Efficacy and Tolerability of the Ketogenic Diet According to Lipid:Nonlipid Ratios—Comparison of 3:1 with 4:1 Diet.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 4, p. 801, doi. 10.1111/j.1528-1167.2007.01025.x
- By:
- Publication type:
- Article
Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 1, p. 82, doi. 10.1111/j.1528-1167.2006.00906.x
- By:
- Publication type:
- Article
Use of a Modified Atkins Diet in Intractable Childhood Epilepsy.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 1, p. 182, doi. 10.1111/j.1528-1167.2006.00910.x
- By:
- Publication type:
- Article
Efficacy and Safety of the Ketogenic Diet for Intractable Childhood Epilepsy: Korean Multicentric Experience.
- Published in:
- Epilepsia (Series 4), 2005, v. 46, n. 2, p. 272, doi. 10.1111/j.0013-9580.2005.48504.x
- By:
- Publication type:
- Article
Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 9, p. 1, doi. 10.1371/journal.pgen.1010404
- By:
- Publication type:
- Article
Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2017, v. 20, n. 4, p. 259, doi. 10.5223/pghn.2017.20.4.259
- By:
- Publication type:
- Article
EEG Characteristics and Diagnostic Implications in Childhood Headache: A Multi-Center Study.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.569486
- By:
- Publication type:
- Article
The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00530
- By:
- Publication type:
- Article
Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 11, p. 1825, doi. 10.1111/j.1651-2227.2009.01428.x
- By:
- Publication type:
- Article
Automatic Identification of Interictal Epileptiform Discharges in Secondary Generalized Epilepsy.
- Published in:
- Computational & Mathematical Methods in Medicine, 2016, p. 1, doi. 10.1155/2016/8701973
- By:
- Publication type:
- Article
Resective Epilepsy Surgery after Corpus Callosotomy in Children with Lennox-Gastaut Syndrome.
- Published in:
- Annals of Child Neurology, 2024, v. 32, n. 1, p. 13, doi. 10.26815/acn.2023.00164
- By:
- Publication type:
- Article
Efficacy and Safety of Lamotrigine Adjunctive Therapy in Lennox-Gastaut Syndrome.
- Published in:
- Annals of Child Neurology, 2023, v. 31, n. 2, p. 91, doi. 10.26815/acn.2022.00437
- By:
- Publication type:
- Article