Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.

[1]  E. Aronica,et al.  Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy , 2023, Brain : a journal of neurology.

[2]  D. Geschwind,et al.  Tuberous sclerosis complex is associated with a novel human tauopathy , 2022, Acta Neuropathologica.

[3]  E. Aronica,et al.  GABAergic Neurotransmission in Human Tissues Is Modulated by Cannabidiol , 2022, Life.

[4]  Patrick J. Karas,et al.  Epilepsy Surgery in Young Children With Tuberous Sclerosis Complex: A Novel Hybrid Multimodal Surgical Approach , 2022, Neurosurgery.

[5]  K. Riney,et al.  Clinical seizure semiology is subtle and identification of seizures by parents is unreliable in infants with tuberous sclerosis complex , 2022, Epilepsia.

[6]  E. Eklund,et al.  Satisfaction and seizure outcomes of epilepsy surgery in tuberous sclerosis: A Swedish population-based long-term follow-up study , 2022, Seizure.

[7]  Jianxiang Liao,et al.  Machine learning and statistic analysis to predict drug treatment outcome in pediatric epilepsy patients with tuberous sclerosis complex , 2022, Epilepsy Research.

[8]  M. Zilbovicius,et al.  The longitudinal evolution of cerebral blood flow in children with tuberous sclerosis assessed by arterial spin labeling magnetic resonance imaging may be related to cognitive performance , 2022, European Radiology.

[9]  E. Aronica,et al.  Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy , 2022, The Lancet Neurology.

[10]  N. Brown,et al.  Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting , 2022, Human mutation.

[11]  G. Huberfeld,et al.  GluN2C selective inhibition is a target to develop new antiepileptic compounds , 2022, Epilepsia.

[12]  M. Fujimoto,et al.  Sirolimus relieves seizures and neuropsychiatric symptoms via changes of microglial polarity in tuberous sclerosis complex model mice , 2022, Neuropharmacology.

[13]  P. Kahane,et al.  Epileptic spasms are associated with increased stereo‐electroencephalography derived functional connectivity in tuberous sclerosis complex , 2022, Epilepsia.

[14]  Katrina Jane Williams,et al.  The autism spectrum disorder phenotype in children with tuberous sclerosis complex: A systematic review and meta‐analysis , 2022, Developmental medicine and child neurology.

[15]  J. Liao,et al.  Ketogenic Diet Therapy for Drug-Resistant Epilepsy and Cognitive Impairment in Children With Tuberous Sclerosis Complex , 2022, Frontiers in Neurology.

[16]  Yvette N. Lamb.  Ganaxolone: First Approval , 2022, Drugs.

[17]  Jeffrey Z. Nie,et al.  The role of neurosurgery in the management of tuberous sclerosis complex-associated epilepsy: a systematic review. , 2022, Neurosurgical focus.

[18]  K. Kotulska,et al.  Antiepileptic Effect and Safety Profile of Rapamycin in Pediatric Patients With Tuberous Sclerosis Complex , 2022, Frontiers in Neurology.

[19]  M. LoPresti,et al.  The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis. , 2022, Journal of neurosurgery. Pediatrics.

[20]  L. Lagae,et al.  Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex , 2022, Neurology.

[21]  E. Thiele,et al.  Long‐term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open‐label extension trial , 2021, Epilepsia.

[22]  Jing Wang,et al.  Vagus nerve stimulation for drug-resistant epilepsy induced by tuberous sclerosis complex , 2021, Epilepsy & Behavior.

[23]  S. Jóźwiak,et al.  Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review , 2021, Journal of clinical medicine.

[24]  L. Lagae,et al.  Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study , 2021, Developmental medicine and child neurology.

[25]  R. Touraine,et al.  Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry , 2021, Frontiers in Neurology.

[26]  C. Chiron,et al.  Pharmacotherapy for Seizures in Tuberous Sclerosis Complex , 2021, CNS Drugs.

[27]  K. Kotulska,et al.  A multistep approach to the genotype-phenotype analysis of polish patients with tuberous sclerosis complex. , 2021, European journal of medical genetics.

[28]  H. Weiner,et al.  Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. , 2021, Pediatric neurology.

[29]  W. Löscher,et al.  New approaches for developing multi-targeted drug combinations for disease modification of complex brain disorders. Does epilepsy prevention become a realistic goal? , 2021, Pharmacology & therapeutics.

[30]  E. Aronica,et al.  Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies , 2021, Neuropathology and applied neurobiology.

[31]  M. Snapyan,et al.  Sensitive period for rescuing parvalbumin interneurons connectivity and social behavior deficits caused by TSC1 loss , 2021, Nature Communications.

[32]  L. Tassi,et al.  Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study , 2021, Journal of the Neurological Sciences.

[33]  S. Cavalheiro,et al.  Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report , 2021, Child's Nervous System.

[34]  L. Lagae,et al.  Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes , 2021, Epilepsia.

[35]  R. Touraine,et al.  TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex , 2021, Frontiers in Neurology.

[36]  L. Lagae,et al.  Fetal Brain MRI Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex. , 2021, The Journal of pediatrics.

[37]  D. Kaping,et al.  mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus , 2021, Journal of neurodevelopmental disorders.

[38]  C. Marras,et al.  Surgery for drug-resistant tuberous sclerosis complex-associated epilepsy: who, when, and what. , 2021, Epileptic disorders : international epilepsy journal with videotape.

[39]  M. Likeman,et al.  The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial , 2021, EClinicalMedicine.

[40]  M. Fox,et al.  Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network , 2021, Annals of neurology.

[41]  E. Wirrell,et al.  Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex , 2020, JAMA neurology.

[42]  R. Garbelli,et al.  Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? , 2020, Neurology: Genetics.

[43]  P. Curatolo,et al.  Developmental and epileptic encephalopathies: what we do and do not know. , 2020, Brain : a journal of neurology.

[44]  L. Lagae,et al.  Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial , 2020, Annals of neurology.

[45]  S. Roberds,et al.  Approach to Preventive Epilepsy Treatment in Tuberous Sclerosis Complex and Current Clinical Practice in 23 Countries. , 2020, Pediatric neurology.

[46]  L. Lagae,et al.  Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics , 2020, Frontiers in Neurology.

[47]  K. Shokat,et al.  Brain-restricted mTOR inhibition with binary pharmacology , 2020, bioRxiv.

[48]  E. Aronica,et al.  Tuberous Sclerosis Complex as Disease Model for Investigating mTOR-Related Gliopathy During Epileptogenesis , 2020, Frontiers in Neurology.

[49]  G. Mathern,et al.  Effect of Gene Mutation on Seizures in Surgery for Tuberous Sclerosis Complex , 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[50]  A. Represa,et al.  Progression of Fetal Brain Lesions in Tuberous Sclerosis Complex , 2020, Frontiers in Neuroscience.

[51]  P. Curatolo,et al.  Autism and Epilepsy in Patients With Tuberous Sclerosis Complex , 2020, Frontiers in Neurology.

[52]  G. Cutter,et al.  Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex. , 2020, Pediatric neurology.

[53]  L. Lagae,et al.  Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? , 2020, Annals of clinical and translational neurology.

[54]  L. Lagae,et al.  TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study , 2020, Genetics in Medicine.

[55]  Madeline G. Andrews,et al.  mTOR signaling regulates the morphology and migration of outer radial glia in developing human cortex , 2020, bioRxiv.

[56]  Tanya L. Brown,et al.  Mechanistic Target of Rapamycin Regulates the Oligodendrocyte Cytoskeleton during Myelination , 2020, The Journal of Neuroscience.

[57]  Yi Yao,et al.  Resective epilepsy surgery in tuberous sclerosis complex: a nationwide multicentre retrospective study from China. , 2020, Brain : a journal of neurology.

[58]  Benjamin J. Whalley,et al.  The proposed mechanisms of action of CBD in epilepsy. , 2020, Epileptic disorders : international epilepsy journal with videotape.

[59]  D. Krueger,et al.  Cannabidiol Elevates Mechanistic Target of Rapamycin Inhibitor Levels in Patients With Tuberous Sclerosis Complex. , 2019, Pediatric neurology.

[60]  N. Limdi,et al.  Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study , 2019, Epilepsia.

[61]  T. Bast,et al.  Cannabidiol Interacts Significantly with Everolimus—Report of a Patient with Tuberous Sclerosis Complex , 2019, Neuropediatrics.

[62]  E. Aronica,et al.  New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives , 2019, Journal of anatomy.

[63]  D. Rizopoulos,et al.  A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex , 2019, Neurology.

[64]  M. Whitehead,et al.  “Laser and the Tuber”: thermal dynamic and volumetric factors influencing seizure outcomes in pediatric subjects with tuberous sclerosis undergoing stereoencephalography-directed laser ablation of tubers , 2019, Child's Nervous System.

[65]  L. Lagae,et al.  Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study , 2019, Journal of clinical medicine.

[66]  A. Bordey,et al.  mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia , 2019, The Journal of Neuroscience.

[67]  K. Kapur,et al.  Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. , 2019, Pediatric neurology.

[68]  M. Jaatun,et al.  Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study , 2018, Epilepsia open.

[69]  O. Devinsky,et al.  Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience. , 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[70]  J. French,et al.  Everolimus for treatment-refractory seizures in TSC , 2018, Neurology. Clinical practice.

[71]  L. Lagae,et al.  Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. , 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[72]  D. Pearson,et al.  A clinical update on tuberous sclerosis complex‐associated neuropsychiatric disorders (TAND) , 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

[73]  Jung-Tung Liu,et al.  Trend of seizure remission in patients with tuberous sclerosis complex: A retrospective medical review , 2018, Journal of the Chinese Medical Association : JCMA.

[74]  L. Gortner,et al.  Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study , 2018, Orphanet Journal of Rare Diseases.

[75]  J. French,et al.  Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial. , 2018, The Lancet. Child & adolescent health.

[76]  A. Vignoli,et al.  Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? , 2018, Orphanet Journal of Rare Diseases.

[77]  E. Aronica,et al.  mTOR dysregulation and tuberous sclerosis-related epilepsy , 2018, Expert review of neurotherapeutics.

[78]  L. Jansen.  The Space-Time Continuum of Cortical Dysplasia , 2017, Cell reports.

[79]  R. Foroozan.  Vigabatrin: Lessons Learned From the United States Experience , 2017, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[80]  M. Sahin,et al.  Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants , 2017, Pediatrics.

[81]  J. Nakagawa,et al.  Predictors of Drug-Resistant Epilepsy in Tuberous Sclerosis Complex , 2017, Journal of child neurology.

[82]  J. D. Mills,et al.  Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations , 2017, Oncotarget.

[83]  J. D. Mills,et al.  Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment , 2017, Scientific Reports.

[84]  Orrin Devinsky,et al.  The genomic landscape of tuberous sclerosis complex , 2017, Nature Communications.

[85]  Hoon-Chul Kang,et al.  Ketogenic Diet for the Management of Epilepsy Associated with Tuberous Sclerosis Complex in Children , 2017, Journal of epilepsy research.

[86]  A. Byars,et al.  Influence of seizures on early development in tuberous sclerosis complex , 2017, Epilepsy & Behavior.

[87]  Edouard Hirsch,et al.  ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology , 2017, Epilepsia.

[88]  A. Wilfong,et al.  Long-term treatment of epilepsy with everolimus in tuberous sclerosis , 2016, Neurology.

[89]  C. Limatola,et al.  Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions , 2016, Neurobiology of Disease.

[90]  J. French,et al.  Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study , 2016, The Lancet.

[91]  G. Mathern,et al.  Cost-utility analysis of competing treatment strategies for drug-resistant epilepsy in children with Tuberous Sclerosis Complex , 2016, Epilepsy & Behavior.

[92]  L. Lagae,et al.  Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC. , 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[93]  K. Kotulska,et al.  The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions , 2016, Drugs.

[94]  Ling Lin,et al.  Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing , 2015, PLoS genetics.

[95]  D. Lee.  Roles of mTOR Signaling in Brain Development , 2015, Experimental neurobiology.

[96]  M. Dallas,et al.  Molecular Targets of Cannabidiol in Neurological Disorders , 2015, Neurotherapeutics.

[97]  N. Rensing,et al.  Inflammatory mechanisms contribute to the neurological manifestations of tuberous sclerosis complex , 2015, Neurobiology of Disease.

[98]  P. J. Vries,et al.  Neurological and neuropsychiatric aspects of tuberous sclerosis complex , 2015, The Lancet Neurology.

[99]  P. Curatolo.  Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. , 2015, Pediatric neurology.

[100]  W. Grajkowska,et al.  Epilepsy in newborns with tuberous sclerosis complex. , 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[101]  Y. Ben-Ari,et al.  Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model , 2014, Nature Communications.

[102]  Hope Northrup,et al.  Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. , 2013, Pediatric neurology.

[103]  E. Powell,et al.  Current Review , 2022 .

[104]  P. Dash,et al.  The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex. , 2012, Human molecular genetics.

[105]  Annapurna Poduri,et al.  Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia , 2012, Annals of neurology.

[106]  M. Mizuguchi,et al.  Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex , 2012, Nature Communications.

[107]  S. Camposano,et al.  The natural history of epilepsy in tuberous sclerosis complex , 2009, Epilepsia.

[108]  S. Sehgal,et al.  Rapamycin (AY-22,989), a new antifungal antibiotic. II. Fermentation, isolation and characterization.:II. FERMENTATION, ISOLATION AND CHARACTERIZATION , 1975 .

[109]  J. Osborne,et al.  Causes of mortality in individuals with tuberous sclerosis complex. , 2017, Developmental medicine and child neurology.