Current concepts on epilepsy management in tuberous sclerosis complex

Canevini, Maria Paola; Kotulska‐Jozwiak, Katarzyna; Curatolo, Paolo; La Briola, Francesca; Peron, Angela; Słowińska, Monika; Strzelecka, Jolanta; Vignoli, Aglaia; Jóźwiak, Sergiusz

doi:10.1002/ajmg.c.31652

Title: Current concepts on epilepsy management in tuberous sclerosis complex

Journal Article · Wed Sep 26 00:00:00 EDT 2018 · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

DOI:https://doi.org/10.1002/ajmg.c.31652· OSTI ID:1524464

Canevini, Maria Paola ^[1]; Kotulska‐Jozwiak, Katarzyna ^[2]; Curatolo, Paolo ^[3]; La Briola, Francesca ^[1];

^[4]; Słowińska, Monika ^[5]; Strzelecka, Jolanta ^[6];

^[1]; Jóźwiak, Sergiusz ^[5]

Child Neuropsychiatry Unit ‐ Epilepsy Center, San Paolo Hospital, Department of Health Sciences Università degli Studi di Milano Milan Italy
Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Poland
Department of Pediatric Neuropsychiatry Tor Vergata University Rome Italy
Child Neuropsychiatry Unit ‐ Epilepsy Center, San Paolo Hospital, Department of Health Sciences Università degli Studi di Milano Milan Italy, Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City Utah
Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Poland, Department of Pediatric Neurology Warsaw Medical University Warsaw Poland
Department of Pediatric Neurology Warsaw Medical University Warsaw Poland

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease affecting approximately 1 in 6,000 people, and represents one of the most common genetic causes of epilepsy. Epilepsy affects 90% of the patients and appears in the first 2 years of life in the majority of them. Early onset of epilepsy in the first 12 months of life is associated with high risk of cognitive decline and neuropsychiatric problems including autism. Prenatal or early infantile diagnosis of TSC, before the onset of epilepsy, provides a unique opportunity to monitor EEG before the onset of clinical seizures, thus enabling early intervention in the process of epileptogenesis. In this review, we discuss the current status of knowledge on epileptogenesis in TSC, and present recommendations of American and European experts in the field of epilepsy.

View Accepted Manuscript (Publisher)

Cite

Export

Save

Sponsoring Organization:: USDOE

OSTI ID:: 1524464

Journal Information:: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Journal Name: American Journal of Medical Genetics Part C: Seminars in Medical Genetics Vol. 178 Journal Issue: 3; ISSN 1552-4868

Publisher:: Wiley Blackwell (John Wiley & Sons)Copyright Statement

Country of Publication:: Country unknown/Code not available

Language:: English

Citation Metrics:

Cited by: 26 works

Citation information provided by
Web of Science

References (93)

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants Wu, Joyce Y.; Peters, Jurriaan M.; Goyal, Monisha Pediatric Neurology, Vol. 54 https://doi.org/10.1016/j.pediatrneurol.2015.09.013	journal	January 2016
Low glycemic index treatment for epilepsy in tuberous sclerosis complex Larson, Anna M.; Pfeifer, Heidi H.; Thiele, Elizabeth A. Epilepsy Research, Vol. 99, Issue 1-2 https://doi.org/10.1016/j.eplepsyres.2011.10.021	journal	March 2012
Clinical Progress of Epilepsy in Children with Tuberous Sclerosis: Prognostic Factors for Seizure Outcome Park, Soo Min; Lee, Young Jin; Son, Young Joon Chonnam Medical Journal, Vol. 47, Issue 3 https://doi.org/10.4068/cmj.2011.47.3.150	journal	January 2011
Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex Perek-Polnik, Marta; Jóźwiak, Sergiusz; Jurkiewicz, Elżbieta European Journal of Paediatric Neurology, Vol. 16, Issue 1 https://doi.org/10.1016/j.ejpn.2011.09.006	journal	January 2012
New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders (TAND) Gipson, Tanjala T.; Johnston, Michael V. F1000Research, Vol. 6 https://doi.org/10.12688/f1000research.11110.1	journal	January 2017
Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation: Fetal Brain Lesions and TSC Prabowo, Avanita S.; Anink, Jasper J.; Lammens, Martin Brain Pathology, Vol. 23, Issue 1 https://doi.org/10.1111/j.1750-3639.2012.00616.x	journal	August 2012
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms van Eeghen, Agnies M.; Nellist, Mark; van Eeghen, Elmer E. Epilepsy Research, Vol. 103, Issue 1 https://doi.org/10.1016/j.eplepsyres.2012.07.007	journal	January 2013
Mechanistic Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy Curatolo, Paolo Pediatric Neurology, Vol. 52, Issue 3 https://doi.org/10.1016/j.pediatrneurol.2014.10.028	journal	March 2015
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex Zeng, Ling-Hui; Xu, Lin; Gutmann, David H. Annals of Neurology, Vol. 63, Issue 4 https://doi.org/10.1002/ana.21331	journal	April 2008
The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis Coppola, Giangennaro; Klepper, Jörg; Ammendola, Eduardo European Journal of Paediatric Neurology, Vol. 10, Issue 3 https://doi.org/10.1016/j.ejpn.2006.03.001	journal	May 2006
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? Słowińska, Monika; Jóźwiak, Sergiusz; Peron, Angela Orphanet Journal of Rare Diseases, Vol. 13, Issue 1 https://doi.org/10.1186/s13023-018-0764-z	journal	January 2018
Predictors of Seizure Outcomes in Children with Tuberous Sclerosis Complex and Intractable Epilepsy Undergoing Resective Epilepsy Surgery: An Individual Participant Data Meta-Analysis Fallah, Aria; Guyatt, Gordon H.; Snead, O. Carter PLoS ONE, Vol. 8, Issue 2 https://doi.org/10.1371/journal.pone.0053565	journal	February 2013
Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study Samueli, Sharon; Abraham, Klaus; Dressler, Anastasia Orphanet Journal of Rare Diseases, Vol. 11, Issue 1 https://doi.org/10.1186/s13023-016-0530-z	journal	November 2016
Does the effectiveness of the ketogenic diet in different epilepsies yield insights into its mechanisms? Hartman, Adam L. Epilepsia, Vol. 49 https://doi.org/10.1111/j.1528-1167.2008.01835.x	journal	November 2008
mTOR dysregulation and tuberous sclerosis-related epilepsy Curatolo, Paolo; Moavero, Romina; van Scheppingen, Jackelien Expert Review of Neurotherapeutics, Vol. 18, Issue 3 https://doi.org/10.1080/14737175.2018.1428562	journal	January 2018
Influence of seizures on early development in tuberous sclerosis complex Capal, Jamie K.; Bernardino-Cuesta, Beatriz; Horn, Paul S. Epilepsy & Behavior, Vol. 70 https://doi.org/10.1016/j.yebeh.2017.02.007	journal	May 2017
Levetiracetam as Adjunctive Antiepileptic Therapy for Patients with Tuberous Sclerosis Complex: A Retrospective Open-Label Trial Collins, James J.; Tudor, Cynthia; Leonard, Jennifer M. Journal of Child Neurology, Vol. 21, Issue 1 https://doi.org/10.1177/08830738060210011201	journal	January 2006
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 Curatolo, Paolo; Franz, David N.; Lawson, John A. The Lancet Child & Adolescent Health, Vol. 2, Issue 7 https://doi.org/10.1016/S2352-4642(18)30099-3	journal	July 2018
The Pharmacological Basis of Cannabis Therapy for Epilepsy Reddy, D. S.; Golub, V. M. Journal of Pharmacology and Experimental Therapeutics, Vol. 357, Issue 1 https://doi.org/10.1124/jpet.115.230151	journal	January 2016
Resection of ictal high frequency oscillations is associated with favorable surgical outcome in pediatric drug resistant epilepsy secondary to tuberous sclerosis complex Fujiwara, Hisako; Leach, James L.; Greiner, Hansel M. Epilepsy Research, Vol. 126 https://doi.org/10.1016/j.eplepsyres.2016.07.005	journal	October 2016
Prevention of Epileptogenesis—A New Goal for Epilepsy Therapy Jóźwiak, Sergiusz; Kotulska, Katarzyna Pediatric Neurology, Vol. 51, Issue 6 https://doi.org/10.1016/j.pediatrneurol.2014.08.019	journal	December 2014
A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival Meikle, L.; Talos, D. M.; Onda, H. Journal of Neuroscience, Vol. 27, Issue 21 https://doi.org/10.1523/JNEUROSCI.5540-06.2007	journal	May 2007
Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs Overwater, Iris E.; Bindels-de Heus, Karen; Rietman, André B. Epilepsia, Vol. 56, Issue 8 https://doi.org/10.1111/epi.13050	journal	June 2015
Refractory epilepsy in tuberous sclerosis: Vagus nerve stimulation with or without subsequent resective surgery Elliott, Robert E.; Carlson, Chad; Kalhorn, Stephen P. Epilepsy & Behavior, Vol. 16, Issue 3 https://doi.org/10.1016/j.yebeh.2009.08.018	journal	November 2009
Genotype/Phenotype Correlations in Tuberous Sclerosis Complex Curatolo, Paolo; Moavero, Romina; Roberto, Denis Seminars in Pediatric Neurology, Vol. 22, Issue 4 https://doi.org/10.1016/j.spen.2015.10.002	journal	December 2015
Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex: Cerebral Tuber Count and Mental Outcome Kaczorowska, Magdalena; Jurkiewicz, Elżbieta; Domańska-Pakieła, Dorota Epilepsia, Vol. 52, Issue 1 https://doi.org/10.1111/j.1528-1167.2010.02892.x	journal	January 2011
The Utility of Surveillance Electroencephalography to Guide Early Antiepileptic Drug Therapy in Infants With Tuberous Sclerosis Complex Whitney, Robyn; Jan, Saber; Zak, Maria Pediatric Neurology, Vol. 72 https://doi.org/10.1016/j.pediatrneurol.2017.04.009	journal	July 2017
Surgical treatment for epilepsy in 17 children with tuberous sclerosis-related West syndrome Liu, Shi-Yong; An, Ning; Yang, Mei-Hua Epilepsy Research, Vol. 101, Issue 1-2 https://doi.org/10.1016/j.eplepsyres.2012.02.017	journal	August 2012
Tuberous Sclerosis: Surgical Therapy for Seizures Perot, Phanor Archives of Neurology, Vol. 15, Issue 5 https://doi.org/10.1001/archneur.1966.00470170052005	journal	November 1966
Epilepsy in tuberous sclerosis patients in Sweden – Healthcare utilization, treatment, morbidity, and mortality using national register data Welin, Karl-Olof; Carlqvist, Peter; Svensson, Anders Seizure, Vol. 53 https://doi.org/10.1016/j.seizure.2017.10.005	journal	December 2017
Epilepsy in newborns with tuberous sclerosis complex Kotulska, Katarzyna; Jurkiewicz, Elżbieta; Domańska-Pakieła, Dorota European Journal of Paediatric Neurology, Vol. 18, Issue 6 https://doi.org/10.1016/j.ejpn.2014.06.009	journal	November 2014
Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex Wu, J. Y.; Salamon, N.; Kirsch, H. E. Neurology, Vol. 74, Issue 5 https://doi.org/10.1212/WNL.0b013e3181ce5d9e	journal	February 2010
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 Peron, Angela; Vignoli, Aglaia; Briola, Francesca La European Journal of Medical Genetics, Vol. 61, Issue 7 https://doi.org/10.1016/j.ejmg.2018.02.005	journal	July 2018
Lamotrigine Therapy of Epilepsy in Tuberous Sclerosis Franz, David Neal; Tudor, Cynthia; Leonard, Jennifer Epilepsia, Vol. 42, Issue 7 https://doi.org/10.1046/j.1528-1157.2001.042007935.x	journal	July 2001
Epilepsy surgery in tuberous sclerosis complex: early predictive elements and outcome Teutonico, F.; Mai, R.; Devinsky, O. Child's Nervous System, Vol. 24, Issue 12 https://doi.org/10.1007/s00381-008-0679-4	journal	August 2008
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex Jóźwiak, Sergiusz; Kotulska, Katarzyna; Domańska-Pakieła, Dorota European Journal of Paediatric Neurology, Vol. 15, Issue 5 https://doi.org/10.1016/j.ejpn.2011.03.010	journal	September 2011
Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity Jammoul, Firas; Wang, Qingping; Nabbout, Rima Annals of Neurology, Vol. 65, Issue 1 https://doi.org/10.1002/ana.21526	journal	January 2009
Distinctive MRI features of the epileptogenic zone in children with tuberous sclerosis Jahodova, A.; Krsek, P.; Kyncl, M. European Journal of Radiology, Vol. 83, Issue 4 https://doi.org/10.1016/j.ejrad.2013.12.024	journal	April 2014
Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies: Definition of Drug Resistant Epilepsy Kwan, Patrick; Arzimanoglou, Alexis; Berg, Anne T. Epilepsia, Vol. 51, Issue 6 https://doi.org/10.1111/j.1528-1167.2009.02397.x	journal	November 2009
Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis Cusmai, Raffaella; Moavero, Romina; Bombardieri, Roberta Epilepsy & Behavior, Vol. 22, Issue 4 https://doi.org/10.1016/j.yebeh.2011.08.037	journal	December 2011
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study French, Jacqueline A.; Lawson, John A.; Yapici, Zuhal The Lancet, Vol. 388, Issue 10056 https://doi.org/10.1016/S0140-6736(16)31419-2	journal	October 2016
Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study Fallah, Aria; Rodgers, Shaun D.; Weil, Alexander G. Neurosurgery, Vol. 77, Issue 4 https://doi.org/10.1227/NEU.0000000000000875	journal	January 2015
Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex Hess, Evan J.; Moody, Kirsten A.; Geffrey, Alexandra L. Epilepsia, Vol. 57, Issue 10 https://doi.org/10.1111/epi.13499	journal	October 2016
Centre of epileptogenic tubers generate and propagate seizures in tuberous sclerosis Kannan, Lakshminarayanan; Vogrin, Simon; Bailey, Catherine Brain, Vol. 139, Issue 10 https://doi.org/10.1093/brain/aww192	journal	August 2016
Epilepsy Surgery in Young Children With Tuberous Sclerosis: Results of a Novel Approach Weiner, H. L. PEDIATRICS, Vol. 117, Issue 5 https://doi.org/10.1542/peds.2005-1206	journal	May 2006
Ketogenic Diet for the Management of Epilepsy Associated with Tuberous Sclerosis Complex in Children Park, Soyoung; Lee, Eun Joo; Eom, Soyong Journal of Epilepsy Research, Vol. 7, Issue 1 https://doi.org/10.14581/jer.17008	journal	June 2017
The natural history of epilepsy in tuberous sclerosis complex: Epilepsy in TSC Chu-Shore, Catherine J.; Major, Philippe; Camposano, Susana Epilepsia, Vol. 51, Issue 7 https://doi.org/10.1111/j.1528-1167.2009.02474.x	journal	December 2009
Epilepsy Surgery in Tuberous Sclerosis: A Systematic Review: EPILEPSY SURGERY IN TUBEROUS SCLEROSIS Jansen, Floor E.; Van Huffelen, Alexander. C.; Algra, †§Ale Epilepsia, Vol. 48, Issue 8 https://doi.org/10.1111/j.1528-1167.2007.01117.x	journal	May 2007
Severity of manifestations in tuberous sclerosis complex in relation to genotype Kothare, Sanjeev V.; Singh, Kanwaljit; Chalifoux, Jason R. Epilepsia, Vol. 55, Issue 7 https://doi.org/10.1111/epi.12680	journal	June 2014
Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures Savini, Miriam Nella; Mingarelli, Alessia; Vignoli, Aglaia Epilepsy & Behavior, Vol. 85 https://doi.org/10.1016/j.yebeh.2018.05.027	journal	August 2018
EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients – A prospective study of 5 patients Domańska-Pakieła, D.; Kaczorowska, M.; Jurkiewicz, E. European Journal of Paediatric Neurology, Vol. 18, Issue 4 https://doi.org/10.1016/j.ejpn.2013.12.006	journal	July 2014
Lacosamide use in the treatment of refractory epilepsy in tuberous sclerosis complex Geffrey, Alexandra L.; Belt, Olivia D.; Paolini, Jan L. Epilepsy Research, Vol. 112 https://doi.org/10.1016/j.eplepsyres.2015.02.008	journal	May 2015
Consistent Localization of Interictal Epileptiform Activity on EEGs of Patients with Tuberous Sclerosis Complex Jansen, Floor E.; van Huffelen, Alexander C.; Bourez-Swart, Mireille Epilepsia, Vol. 46, Issue 3 https://doi.org/10.1111/j.0013-9580.2005.31704.x	journal	March 2005
Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex Kotulska, Katarzyna; Chmielewski, Dariusz; Borkowska, Julita European Journal of Paediatric Neurology, Vol. 17, Issue 5 https://doi.org/10.1016/j.ejpn.2013.03.002	journal	September 2013
Tubers, epileptogenic foci, and epileptogenic networks in tuberous sclerosis: GRAY MATTERS Curatolo, Paolo; Moavero, Romina Epilepsia, Vol. 51, Issue 11 https://doi.org/10.1111/j.1528-1167.2010.02713.x	journal	October 2010
Tuberous sclerosis complex Henske, Elizabeth P.; Jóźwiak, Sergiusz; Kingswood, J. Christopher Nature Reviews Disease Primers, Vol. 2, Issue 1 https://doi.org/10.1038/nrdp.2016.35	journal	May 2016
Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study Benova, Barbora; Petrak, Borivoj; Kyncl, Martin European Journal of Paediatric Neurology, Vol. 22, Issue 4 https://doi.org/10.1016/j.ejpn.2018.03.001	journal	July 2018
Vagus Nerve Stimulation for Refractory Epilepsy in Tuberous Sclerosis Zamponi, Nelia; Petrelli, Cristina; Passamonti, Claudia Pediatric Neurology, Vol. 43, Issue 1 https://doi.org/10.1016/j.pediatrneurol.2010.03.003	journal	July 2010
White matter disruption is associated with persistent seizures in tuberous sclerosis complex Moavero, Romina; Napolitano, Antonio; Cusmai, Raffaella Epilepsy & Behavior, Vol. 60 https://doi.org/10.1016/j.yebeh.2016.04.026	journal	July 2016
Cognitive deficits in Tsc1 ^+/− mice in the absence of cerebral lesions and seizures Goorden, Susanna M. I.; van Woerden, Geeske M.; van der Weerd, Louise Annals of Neurology, Vol. 62, Issue 6 https://doi.org/10.1002/ana.21317	journal	December 2007
Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex: Case Report With Molecular Confirmation Jóźwiak, Sergiusz; Domańska-Pakieła, Dorota; Kwiatkowski, David J. Journal of Child Neurology, Vol. 20, Issue 12 https://doi.org/10.1177/08830738050200121101	journal	December 2005
Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome Chung, Clara W. T.; Lawson, John A.; Sarkozy, Vanessa Pediatric Neurology, Vol. 76 https://doi.org/10.1016/j.pediatrneurol.2017.05.014	journal	November 2017
Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations Curatolo, Paolo; Jóźwiak, Sergiusz; Nabbout, Rima European Journal of Paediatric Neurology, Vol. 16, Issue 6 https://doi.org/10.1016/j.ejpn.2012.05.004	journal	November 2012
Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome Stafstrom, Carl E.; Staedtke, Verena; Comi, Anne M. Frontiers in Neurology, Vol. 8 https://doi.org/10.3389/fneur.2017.00087	journal	March 2017
Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex Major, Philippe; Thiele, Elizabeth A. Epilepsy & Behavior, Vol. 13, Issue 2 https://doi.org/10.1016/j.yebeh.2008.04.001	journal	August 2008
Neurological and neuropsychiatric aspects of tuberous sclerosis complex Curatolo, Paolo; Moavero, Romina; de Vries, Petrus J. The Lancet Neurology, Vol. 14, Issue 7 https://doi.org/10.1016/S1474-4422(15)00069-1	journal	July 2015
Infantile spasms: A U.S. consensus report: Infantile Spasms Pellock, John M.; Hrachovy, Richard; Shinnar, Shlomo Epilepsia, Vol. 51, Issue 10 https://doi.org/10.1111/j.1528-1167.2010.02657.x	journal	July 2010
Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis: A retrospective cohort study Wang, Yang-Yang; Pang, Ling-Yu; Ma, Shu-Fang Epilepsy & Behavior, Vol. 77 https://doi.org/10.1016/j.yebeh.2017.09.017	journal	December 2017
Epilepsy in TSC: Certain etiology does not mean certain prognosis Vignoli, Aglaia; Briola, Francesca La; Turner, Katherine Epilepsia, Vol. 54, Issue 12 https://doi.org/10.1111/epi.12430	journal	November 2013
Long-term treatment of epilepsy with everolimus in tuberous sclerosis Krueger, Darcy A.; Wilfong, Angus A.; Mays, Maxwell Neurology, Vol. 87, Issue 23 https://doi.org/10.1212/WNL.0000000000003400	journal	November 2016
Mechanisms of epileptogenesis and potential treatment targets Pitkänen, Asla; Lukasiuk, Katarzyna The Lancet Neurology, Vol. 10, Issue 2 https://doi.org/10.1016/S1474-4422(10)70310-0	journal	February 2011
Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures Franz, David N.; Lawson, John A.; Yapici, Zuhal Epilepsia, Vol. 59, Issue 6 https://doi.org/10.1111/epi.14085	journal	May 2018
Clobazam therapy of refractory epilepsy in tuberous sclerosis complex Jennesson, Melanie; van Eeghen, Agnies M.; Caruso, Paul A. Epilepsy Research, Vol. 104, Issue 3 https://doi.org/10.1016/j.eplepsyres.2012.10.010	journal	May 2013
Vagus nerve stimulation in children with drug-resistant epilepsy: age at implantation and shorter duration of epilepsy as predictors of better efficacy? Lagae, Lieven; Verstrepen, An; Nada, Ayman Epileptic Disorders, Vol. 17, Issue 3 https://doi.org/10.1684/epd.2015.0768	journal	September 2015
Refractory spasms of focal onset—A potentially curable disease that should lead to rapid surgical evaluation Chipaux, Mathilde; Dorfmüller, Georg; Fohlen, Martine Seizure, Vol. 51 https://doi.org/10.1016/j.seizure.2017.08.010	journal	October 2017
Tuberous Sclerosis Complex and the Ketogenic Diet Kossoff, Eric H.; Thiele, Elizabeth A.; Pfeifer, Heidi H. Epilepsia, Vol. 46, Issue 10 https://doi.org/10.1111/j.1528-1167.2005.00266.x	journal	October 2005
Discontinuing the Ketogenic Diet in Seizure-Free Children: Recurrence and Risk Factors Martinez, Celina C.; Pyzik, Paula L.; Kossoff, Eric H. Epilepsia, Vol. 48, Issue 1 https://doi.org/10.1111/j.1528-1167.2006.00911.x	journal	January 2007
Tumor growth in patients with tuberous sclerosis complex on the ketogenic diet Chu-Shore, Catherine J.; Thiele, Elizabeth A. Brain and Development, Vol. 32, Issue 4 https://doi.org/10.1016/j.braindev.2009.04.009	journal	April 2010
Autistic regression associated with seizure onset in an infant with tuberous sclerosis Humphrey, Ayla; Neville, Brian G. R.; Clarke, Antonia Developmental Medicine & Child Neurology, Vol. 48, Issue 7 https://doi.org/10.1111/j.1469-8749.2006.tb01324.x	journal	July 2006
Everolimus treatment of refractory epilepsy in tuberous sclerosis complex: Everolimus for Epilepsy in TSC Krueger, Darcy A.; Wilfong, Angus A.; Holland-Bouley, Katherine Annals of Neurology, Vol. 74, Issue 5 https://doi.org/10.1002/ana.23960	journal	September 2013
Cognitive impairment in tuberous sclerosis complex is a multifactorial condition Jansen, F. E.; Vincken, K. L.; Algra, A. Neurology, Vol. 70, Issue 12 https://doi.org/10.1212/01.wnl.0000280579.04974.c0	journal	November 2007
Long-term High Fat Ketogenic Diet Promotes Renal Tumor Growth in a Rat Model of Tuberous Sclerosis Liśkiewicz, Arkadiusz D.; Kasprowska, Daniela; Wojakowska, Anna Scientific Reports, Vol. 6, Issue 1 https://doi.org/10.1038/srep21807	journal	February 2016
The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions Curatolo, Paolo; Bjørnvold, Marit; Dill, Patricia E. Drugs, Vol. 76, Issue 5 https://doi.org/10.1007/s40265-016-0552-9	journal	February 2016
Cost-utility analysis of competing treatment strategies for drug-resistant epilepsy in children with Tuberous Sclerosis Complex Fallah, Aria; Weil, Alexander G.; Wang, Shelly Epilepsy & Behavior, Vol. 63 https://doi.org/10.1016/j.yebeh.2016.07.034	journal	October 2016
TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival Inoki, Ken; Zhu, Tianqing; Guan, Kun-Liang Cell, Vol. 115, Issue 5 https://doi.org/10.1016/S0092-8674(03)00929-2	journal	November 2003
Predictors of Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Jeong, Anna; Nakagawa, Jo Anne; Wong, Michael Journal of Child Neurology, Vol. 32, Issue 14 https://doi.org/10.1177/0883073817737446	journal	November 2017
Vagus nerve stimulation in refractory epilepsy: New indications and outcome assessment Marras, Carlo Efisio; Chiesa, Valentina; De Benedictis, Alessandro Epilepsy & Behavior, Vol. 28, Issue 3 https://doi.org/10.1016/j.yebeh.2013.05.021	journal	September 2013
Rapamycin Reduces Seizure Frequency in Tuberous Sclerosis Complex Muncy, Jennifer; Butler, Ian J.; Koenig, Mary Kay Journal of Child Neurology, Vol. 24, Issue 4 https://doi.org/10.1177/0883073808324535	journal	January 2009
Role of mTOR inhibitors in epilepsy treatment Sadowski, Krzysztof; Kotulska-Jóźwiak, Katarzyna; Jóźwiak, Sergiusz Pharmacological Reports, Vol. 67, Issue 3 https://doi.org/10.1016/j.pharep.2014.12.017	journal	June 2015
Diffusion tensor imaging identifies changes in normal-appearing white matter within the epileptogenic zone in tuberous sclerosis complex Widjaja, Elysa; Simao, Gustavo; Mahmoodabadi, Sina Zarei Epilepsy Research, Vol. 89, Issue 2-3 https://doi.org/10.1016/j.eplepsyres.2010.01.008	journal	May 2010
Surgical Outcome in Tuberous Sclerosis Complex: A Multicenter Survey: SURGICAL OUTCOME IN TUBEROUS SCLEROSIS COMPLEX Madhavan, Deepak; Schaffer, Sarah; Yankovsky, Alexei Epilepsia, Vol. 48, Issue 8 https://doi.org/10.1111/j.1528-1167.2007.01112.x	journal	May 2007
Akt Inhibitor Perifosine Prevents Epileptogenesis in a Rat Model of Temporal Lobe Epilepsy Zhu, Feng; Kai, Jiejing; Chen, Linglin Neuroscience Bulletin, Vol. 34, Issue 2 https://doi.org/10.1007/s12264-017-0165-7	journal	August 2017
Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges Moavero, Romina; Cerminara, Caterina; Curatolo, Paolo Child's Nervous System, Vol. 26, Issue 11 https://doi.org/10.1007/s00381-010-1128-8	journal	April 2010

Similar Records

Alterations in local cerebral metabolic rates for glucose (LCMRGlc) in childhood epilepsies as determined with FDG and PET

Conference · Wed May 01 00:00:00 EDT 1985 · J. Nucl. Med.; (United States) · OSTI ID:1524464

Phelps, M E; Chugani, H T; Mazziotta, J C; +1 more

MR findings of uterine PEComa in patients with tuberous sclerosis: report of two cases

Journal Article · Mon Apr 01 00:00:00 EDT 2019 · Abdominal Radiology (Online) · OSTI ID:1524464

Nishio, Naoko; Kido, Aki; Minamiguchi, Sachiko; +9 more

The mouse homologue of the human tuberous sclerosis 2 (TSC2) gene maps to chromosome 17, but does not fall within the t{sup w18} or t{sup h20} deletions

Journal Article · Mon Mar 20 00:00:00 EST 1995 · Genomics · OSTI ID:1524464

Pilz, A; Povey, S; Glenister, P

Title: Current concepts on epilepsy management in tuberous sclerosis complex

Citation Formats

References (93)

Similar Records

Related Subjects