mTOR dysregulation and tuberous sclerosis-related epilepsy

No abstract is available for this paper.

• Publication year

  2018

• Venue

  Expert Review of Neurotherapeutics

• Publication date

  2018-01-27

• Fields of study

  Medicine

• Identifiers
  DOI 10.1080/14737175.2018.1428562PMID 29338461
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Dramatic relapse of seizures after everolimus withdrawal.

  2018cited by this paper
• Neuroinflammatory targets and treatments for epilepsy validated in experimental models

  2017cited by this paper
• The Space-Time Continuum of Cortical Dysplasia

  2017cited by this paper
• Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome.

  2017cited by this paper
• The genomic landscape of tuberous sclerosis complex

  2017cited by this paper
• Neuropathology of epilepsy.

  2017cited by this paper
• Progress report on new antiepileptic drugs: A summary of the Thirteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XIII)

  2017cited by this paper
• Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex

  2017cited by this paper
• mTOR Signaling in Growth, Metabolism, and Disease.

  2017cited by this paper
• Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations

  2017cited by this paper
• Epileptogenesis meets Occam's Razor

  2017cited by this paper
• Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

  2017cited by this paper
• Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

  2017cited by this paper
• Molecular neurobiology of mTOR.

  2017cited by this paper
• Systematic review and meta-analysis of differentially expressed miRNAs in experimental and human temporal lobe epilepsy

  2017cited by this paper
• Long-term outcomes of epilepsy surgery in tuberous sclerosis complex

  2017cited by this paper
• Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

  2017cited by this paper
• Increased expression of (immuno)proteasome subunits during epileptogenesis is attenuated by inhibition of the mammalian target of rapamycin pathway

  2017cited by this paper
• mTOR Signaling in Growth, Metabolism, and Disease.

  2017cited by this paper
• Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

  2017cited by this paper
• Mammalian Target of Rapamycin: Its Role in Early Neural Development and in Adult and Aged Brain Function

  2016cited by this paper
• Issue Information–ISSN page

  2016cited by this paper
• Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

  2016cited by this paper
• Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions.

  2016cited by this paper
• Low-grade epilepsy-associated neuroepithelial tumours — the 2016 WHO classification

  2016cited by this paper
• Crucial role of astrocytes in temporal lobe epilepsy.

  2016cited by this paper
• Genetic Basis of Brain Malformations

  2016cited by this paper
• Blood–brain barrier leakage after status epilepticus in rapamycin‐treated rats I: Magnetic resonance imaging

  2016cited by this paper
• Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.

  2016cited by this paper
• Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression

  2016cited by this paper
• Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy

  2016cited by this paper
• Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

  2016cited by this paper
• Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

  2016cited by this paper
• Long-term treatment of epilepsy with everolimus in tuberous sclerosis

  2016cited by this paper
• Common Mechanisms Underlying Epileptogenesis and the Comorbidities of Epilepsy.

  2016cited by this paper
• Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study

  2016cited by this paper
• Challenges in the clinical development of new antiepileptic drugs.

  2016cited by this paper
• Promoter-Specific Hypomethylation Correlates with IL-1β Overexpression in Tuberous Sclerosis Complex (TSC)

  2016cited by this paper
• Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC.

  2016cited by this paper
• Malformations of cortical development

  2016cited by this paper
• Resection of ictal high frequency oscillations is associated with favorable surgical outcome in pediatric drug resistant epilepsy secondary to tuberous sclerosis complex.

  2016cited by this paper
• The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex.

  2016cited by this paper
• Sirolimus for epilepsy in children with tuberous sclerosis complex

  2016cited by this paper
• Dysregulation of the (immuno)proteasome pathway in malformations of cortical development

  2016cited by this paper
• The mTOR signalling cascade: paving new roads to cure neurological disease

  2016cited by this paper
• Centre of epileptogenic tubers generate and propagate seizures in tuberous sclerosis.

  2016cited by this paper
• Comorbidities in Neurology: Is adenosine the common link?

  2015cited by this paper
• Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

  2015cited by this paper
• Epileptogenic but MRI-normal perituberal tissue in Tuberous Sclerosis Complex contains tuber-specific abnormalities

  2015cited by this paper
• Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature.

  2015cited by this paper
• The role of autophagy in epileptogenesis and in epilepsy-induced neuronal alterations

  2015cited by this paper
• Role of astrocytes in epilepsy.

  2015cited by this paper
• The enlarging spectrum of focal cortical dysplasias.

  2015cited by this paper
• Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

  2015cited by this paper
• Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy.

  2015cited by this paper
• Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

  2015cited by this paper
• Neurological and neuropsychiatric aspects of tuberous sclerosis complex.

  2015cited by this paper
• Epileptogenesis.

  2015cited by this paper
• mTOR signaling in epilepsy: insights from malformations of cortical development.

  2015cited by this paper
• Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

  2015cited by this paper
• Timing in neural maturation: arrest, delay, precociousness, and temporal determination of malformations.

  2015cited by this paper
• Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study.

  2015cited by this paper
• Malformations of cortical development and epilepsy.

  2015cited by this paper
• Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the AKT3 gene

  2015influential reference
• Roles of mTOR Signaling in Brain Development

  2015cited by this paper
• Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

  2015cited by this paper
• Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

  2015cited by this paper
• Inflammatory mechanisms contribute to the neurological manifestations of tuberous sclerosis complex.

  2015cited by this paper
• Hypomyelination following deletion of Tsc2 in oligodendrocyte precursors

  2015cited by this paper
• PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

  2015influential reference
• Basic Mechanisms of Epileptogenesis in Pediatric Cortical Dysplasia

  2015cited by this paper
• Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

  2015cited by this paper
• mTOR in Brain Physiology and Pathologies.

  2015cited by this paper
• Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

  2015cited by this paper
• The neurology of mTOR.

  2014cited by this paper
• Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

  2014cited by this paper
• Prenatal diagnosis of hemimegalencephaly.

  2014cited by this paper
• Balanced mTORC1 Activity in Oligodendrocytes Is Required for Accurate CNS Myelination

  2014cited by this paper
• Untangling the pathomechanisms of temporal lobe epilepsy--the promise of epileptic biomarkers and novel therapeutic approaches.

  2014cited by this paper
• Treating Epilepsy in Tuberous Sclerosis with Everolimus: Getting Closer

  2014cited by this paper
• Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

  2014cited by this paper
• Conditional Ablation of Raptor or Rictor Has Differential Impact on Oligodendrocyte Differentiation and CNS Myelination

  2014cited by this paper
• Epilepsy Related to Developmental Tumors and Malformations of Cortical Development

  2014cited by this paper
• Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies

  2014cited by this paper
• Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model

  2014cited by this paper
• Past and Present Definitions of Epileptogenesis and Its Biomarkers

  2014cited by this paper
• mTOR signaling and its roles in normal and abnormal brain development

  2014influential reference
• Fetal brain mTOR signaling activation in tuberous sclerosis complex.

  2014cited by this paper
• Morphogenesis timing of genetically programmed brain malformations in relation to epilepsy.

  2014cited by this paper
• Interictal high frequency oscillations correlating with seizure outcome in patients with widespread epileptic networks in tuberous sclerosis complex

  2014cited by this paper
• BRAF V600E Mutation Is Associated with mTOR Signaling Activation in Glioneuronal Tumors

  2013cited by this paper
• Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis.

  2013cited by this paper
• BRAFV600E mutation is a negative prognosticator in pediatric ganglioglioma

  2013cited by this paper
• Evolving neurobiology of tuberous sclerosis complex

  2013cited by this paper
• Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.

  2013cited by this paper
• Everolimus in tuberous sclerosis patients with intractable epilepsy: a treatment option?

  2013cited by this paper
• Dysembryoplastic Neuroepithelial Tumors Share with Pleomorphic Xanthoastrocytomas and Gangliogliomas BRAFV600E Mutation and Expression

  2013cited by this paper
• Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation

  2013cited by this paper
• A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials

  2013cited by this paper
• Vigabatrin Inhibits Seizures and mTOR Pathway Activation in a Mouse Model of Tuberous Sclerosis Complex

  2013cited by this paper

• Etiology-specific subgroup analysis of initial pharmacotherapy in infantile epileptic spasm syndrome: A single-center cohort study.

  2025cites this paper
• Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy

  2025cites this paper
• NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex

  2025cites this paper
• CRISPR-Cas9 Single Nucleotide Editing of Tuberous Sclerosis Complex 2 Gene in Mesenchymal Stem Cells

  2025cites this paper
• Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex

  2025cites this paper
• Characterizing the Diversity of Layer 2/3 Human Neocortical Neurons in Pediatric Epilepsy

  2025cites this paper
• mTOR and neuroinflammation in epilepsy: implications for disease progression and treatment

  2024influential citation
• Autism: A review

  2024cites this paper
• Potential roles of voltage-gated ion channel disruption in Tuberous Sclerosis Complex

  2024cites this paper
• Medicinal plants and plant-based traditional medicine: Alternative treatments for depression and their potential mechanisms of action

  2024cites this paper
• The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.

  2024cites this paper
• Classification of Current Experimental Models of Epilepsy

  2024cites this paper
• Prenatal mTOR Inhibitors in Tuberous Sclerosis Complex: Current Insights and Future Directions

  2024cites this paper
• Compartment-specific small non-coding RNA changes and nucleolar defects in human mesial temporal lobe epilepsy

  2024cites this paper
• Ragopathies and the rising influence of RagGTPases on human diseases

  2024cites this paper
• Spatial omics reveals molecular changes in focal cortical dysplasia type II.

  2024cites this paper
• Aberrant adenosine signaling in patients with focal cortical dysplasia

  2023cites this paper
• Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

  2023cites this paper
• Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.

  2023cites this paper
• Traditional and Innovative Anti-seizure Medications Targeting Key Physiopathological Mechanisms: Focus on Neurodevelopment and Neurodegeneration

  2023cites this paper
• Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

  2023cites this paper
• Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

  2022cites this paper
• Developmental effects of constitutive mTORC1 hyperactivity and environmental enrichment on structural synaptic plasticity and behaviour in a rat model of autism spectrum disorder

  2022cites this paper
• Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities

  2022cites this paper
• Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

  2022cites this paper
• Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy.

  2022cites this paper
• [Tuberous sclerosis complex].

  2022cites this paper
• A companion to the preclinical common data elements and case report forms for neuropathology studies in epilepsy research. A report of the TASK3 WG2 Neuropathology Working Group of the ILAE/AES Joint Translational Task Force

  2022cites this paper
• Characterizing the diversity of L2/3 human neocortical neurons in epilepsy

  2022cites this paper
• Electroacupuncture Promotes Autophagy by Regulating the AKT/mTOR Signaling Pathway in Temporal Lobe Epilepsy

  2022cites this paper
• Ketogenic Diet Therapy for Drug-Resistant Epilepsy and Cognitive Impairment in Children With Tuberous Sclerosis Complex

  2022cites this paper
• Current role of surgery for tuberous sclerosis complex‐associated epilepsy

  2022cites this paper
• Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex

  2022cites this paper
• Immunity, Ion Channels and Epilepsy

  2022cites this paper
• Analysis and Construction of a Molecular Diagnosis Model of Drug-Resistant Epilepsy Based on Bioinformatics

  2021cites this paper
• Everolimus als krankheitsspezifische Therapieoption bei mit tuberöser Sklerose assoziierter, therapierefraktärer Epilepsie – ein systematischer Überblick

  2021cites this paper
• Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway.

  2021cites this paper
• Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery

  2021cites this paper
• MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

  2021cites this paper
• TSC1 and TSC2 : Tuberous Sclerosis Complex and Its Related Epilepsy Phenotype

  2021cites this paper
• The epileptogenic zone in children with tuberous sclerosis complex is characterized by prominent features of focal cortical dysplasia

  2021cites this paper
• Tau Protein in Drug-Resistant Epilepsy and Cognitive Decline

  2021cites this paper
• Rethinking Lysosomes and Lysosomal Disease.

  2021cites this paper
• Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

  2021cites this paper
• Editorial: Tuberous Sclerosis Complex – Diagnosis and Management

  2021cites this paper
• Neurodevelopmental disorders, diagnosis, mechanism discovery, and paths to clinical management

  2021cites this paper
• The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy

  2021cites this paper
• Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study.

  2021cites this paper
• Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis

  2021cites this paper
• Mechanisms of action of currently used antiseizure drugs.

  2020cites this paper
• Anticonvulsant Agents: Everolimus

  2020cites this paper
• The Important Role of Perituberal Tissue in Epileptic Patients with Tuberous Sclerosis Complex by the Transcriptome Analysis

  2020cites this paper
• Tuberous sclerosis‐associated epilepsy and intellectual disability: what role does the mammalian target of rapamycin pathway play?

  2020cites this paper
• Tuberous Sclerosis Complex as Disease Model for Investigating mTOR-Related Gliopathy During Epileptogenesis

  2020cites this paper
• Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

  2020cites this paper
• West syndrome: a comprehensive review

  2020cites this paper
• Development of an antiepileptogenesis drug screening platform: Effects of everolimus and phenobarbital

  2020cites this paper
• Long-term use of mTORC1 inhibitors in tuberous sclerosis complex associated neurological aspects

  2020cites this paper
• Nonlinear Measure of EEG Complexity in the Eker Rat model of Autism Disorder: a Pilot Study

  2020cites this paper
• Developmental and epileptic encephalopathies: what we do and do not know.

  2020cites this paper
• Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.

  2020cites this paper
• Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

  2019cites this paper
• VOLTAGE-GATED ION CHANNELS Voltage-Gated Sodium Channels

  2019cites this paper
• Changes in vascular density in resected tissue of 97 patients with mild malformation of cortical development, focal cortical dysplasia or TSC‐related cortical tubers

  2019cites this paper
• Artificial intelligence for precision medicine in neurodevelopmental disorders

  2019cites this paper
• Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model

  2019cites this paper
• Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

  2019cites this paper
• Increased matrix metalloproteinases expression in tuberous sclerosis complex: modulation by microRNA 146a and 147b in vitro

  2019cites this paper
• The Roof is Leaking and a Storm is Raging: Repairing the Blood–Brain Barrier in the Fight Against Epilepsy

  2019cites this paper
• New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives

  2019influential citation
• Cannabidiol modulates phosphorylated rpS6 signalling in a zebrafish model of Tuberous Sclerosis Complex

  2019cites this paper
• Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy

  2019cites this paper
• mTOR Signaling and Neural Stem Cells: The Tuberous Sclerosis Complex Model

  2018cites this paper
• Identification and immunophenotype of abnormal cells present in focal cortical dysplasia type IIb

  2018cites this paper
• Cellular antiseizure mechanisms of everolimus in pediatric tuberous sclerosis complex, cortical dysplasia, and non–mTOR‐mediated etiologies

  2018cites this paper
• Oxidative stress and inflammation in a spectrum of epileptogenic cortical malformations: molecular insights into their interdependence

  2018cites this paper
• The Novel Effect of Immunomodulator-Glatiramer Acetate on Epileptogenesis and Epileptic Seizures

  2018cites this paper
• Current concepts on epilepsy management in tuberous sclerosis complex

  2018cites this paper
• The role of microRNAs in epileptogenesis Modulation of brain inflammation and the extracellular matrix

  year unknowncites this paper
• The Roof is Leaking and a Storm is Raging Repairing the Blood-Brain Barrier in the Fight Against Epilepsy

  year unknowncites this paper
• The role of microRNAs in epileptogenesis Modulation of brain inflammation and the extracellular matrix

  year unknowncites this paper