Associated Papers
Seizure occurrence in FCD type II is predicted by lesion position and linked to cytoarchitectural alterations.
Procházková N et al.
Acta Neuropathologica Communications, 2025
Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.
Bakouh N et al.
Brain : a Journal of Neurology, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Genetic validation of a TSC2 immunohistochemistry assay in TSC/mTOR-pathway altered renal tumors.
Akbari A et al.
Human Pathology, 2024
Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.
Kim J et al.
Brain : a Journal of Neurology, 2024
Exploring the impact of somatic variant burden on seizures in focal cortical dysplasia.
Gade M et al.
Brain : a Journal of Neurology, 2024
Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N-methyl-D-aspartate receptors.
Pineau L et al.
Epilepsia, 2024
The allosteric mechanism of mTOR activation can inform bitopic inhibitor optimization.
Liu Y et al.
Chemical Science, 2024
mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy.
Caliò A et al.
Virchows Archiv : an International Journal of Pathology, 2023
Virtual Screening of Different Subclasses of Lignans with Anticancer Potential and Based on Genetic Profile.
Maia MDS et al.
Molecules (basel, Switzerland), 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases.
Farcaş M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Non-Cell Autonomous Epileptogenesis in Focal Cortical Dysplasia.
Koh HY et al.
Annals of Neurology, 2021
Eosinophilic Vacuolated Tumor of the Kidney: A Review of Evolving Concepts in This Novel Subtype With Additional Insights From a Case With MTOR Mutation and Concomitant Chromosome 1 Loss.
Kapur P et al.
Advances in Anatomic Pathology, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD et al.
Plos Genetics, 2021
Precision Therapy for Epilepsy Related to Brain Malformations.
D'Gama AM et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R et al.
Neurology. Genetics, 2021
Genetics of Epileptic Networks: from Focal to Generalized Genetic Epilepsies.
Qaiser F et al.
Current Neurology and Neuroscience Reports, 2020
Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.
Jesus-Ribeiro J et al.
Frontiers in Neuroscience, 2020
mTOR: Role in cancer, metastasis and drug resistance.
Murugan AK
Seminars in Cancer Biology, 2019
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy.
Kim JK et al.
The Journal of Clinical Investigation, 2019
Pathological mTOR mutations impact cortical development.
Tarkowski B et al.
Human Molecular Genetics, 2019
The role of somatic mutational events in the pathogenesis of epilepsy.
Iffland PH et al.
Current Opinion in Neurology, 2019
BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors.
Koh HY et al.
Nature Medicine, 2018
Brain Somatic Mutations in Epileptic Disorders.
Koh HY et al.
Molecules and Cells, 2018
Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination.
Park SM et al.
Neuron, 2018
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G et al.
Clinical Genetics, 2018
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E et al.
Neuropathology and Applied Neurobiology, 2018
Vecuum: identification and filtration of false somatic variants caused by recombinant vector contamination.
Kim J et al.
Bioinformatics (oxford, England), 2016
Mechanistically distinct cancer-associated mTOR activation clusters predict sensitivity to rapamycin.
Xu J et al.
The Journal of Clinical Investigation, 2016
Somatic mutations in disorders with disrupted brain connectivity.
Lee JH
Experimental & Molecular Medicine, 2016
The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex.
Tee AR et al.
Seminars in Cell & Developmental Biology, 2016
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
Lim JS et al.
Nature Medicine, 2015
Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution.
Fisher R et al.
Genome Biology, 2014
The Challenge of Somatic Variants in Focal Cortical Dysplasia.
Jesus-Ribeiro J et al.
Innovations in Clinical Neuroscience, 0