2017 | Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
| PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION |
2018 | BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors | NATURE MEDICINE |
2015 | Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy | NATURE MEDICINE |
2018 | Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination | NEURON |
2019 | Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy | JOURNAL OF CLINICAL INVESTIGATION |
2018 | Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation | NEUROLOGY-GENETICS |
2010 | Comparison of temporal lobectomies of children and adults with intractable temporal lobe epilepsy | CHILDS NERVOUS SYSTEM |
2023 | Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
| NATURE GENETICS |
2023 | Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders | JOURNAL OF MOLECULAR DIAGNOSTICS |
2016 | Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) | PEDIATRIC NEPHROLOGY |
2019 | Epilepsy Surgery for Children With Low-Grade Epilepsy-Associated Tumors: Factors Associated With Seizure Recurrence and Cognitive Function | PEDIATRIC NEUROLOGY |
2020 | Epilepsy surgery for pediatric patients with mild malformation of cortical development | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
2022 | Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE)
| Annals of Child Neurology |
2021 | Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
| ACTA NEUROPATHOLOGICA COMMUNICATIONS |
2017 | Long-term epilepsy-associated tumor in the amygdala of a 16-year-old boy: report of a rare case having intranuclear filaments | BRAIN TUMOR PATHOLOGY |
2008 | Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions | EPILEPSIA |
2011 | Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery. | EPILEPSIA |
2012 | New Classification of Focal Cortical Dysplasia: Application to Practical Diagnosis
| Journal of Epilepsy Research |
2009 | Outcome of surgical treatment in non-lesional intractable childhood epilepsy | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
2019 | Precise detection of low-level somatic mutation in resected epilepsy brain tissue | ACTA NEUROPATHOLOGICA |
2010 | Resective pediatric epilepsy surgery in Lennox-Gastaut syndrome
| PEDIATRICS |
2017 | Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia | AMERICAN JOURNAL OF HUMAN GENETICS |
2016 | Surgical treatment of pediatric focal cortical dysplasia: Clinical spectrum and surgical outcome | NEUROLOGY |