DOE PAGES title logo U.S. Department of Energy
Office of Scientific and Technical Information

Title: Current concepts on epilepsy management in tuberous sclerosis complex

Abstract

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.

Authors:
 [1];  [2];  [3];  [1]; ORCiD logo [4];  [5];  [6]; ORCiD logo [1];  [5]
  1. Child Neuropsychiatry Unit ‐ Epilepsy Center, San Paolo Hospital, Department of Health Sciences Università degli Studi di Milano Milan Italy
  2. Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Poland
  3. Department of Pediatric Neuropsychiatry Tor Vergata University Rome Italy
  4. 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
  5. Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Poland, Department of Pediatric Neurology Warsaw Medical University Warsaw Poland
  6. Department of Pediatric Neurology Warsaw Medical University Warsaw Poland
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
1524464
Resource Type:
Publisher's Accepted Manuscript
Journal Name:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Additional Journal Information:
Journal Name: American Journal of Medical Genetics Part C: Seminars in Medical Genetics Journal Volume: 178 Journal Issue: 3; Journal ID: ISSN 1552-4868
Publisher:
Wiley Blackwell (John Wiley & Sons)
Country of Publication:
Country unknown/Code not available
Language:
English

Citation Formats

Canevini, Maria Paola, Kotulska‐Jozwiak, Katarzyna, Curatolo, Paolo, La Briola, Francesca, Peron, Angela, Słowińska, Monika, Strzelecka, Jolanta, Vignoli, Aglaia, and Jóźwiak, Sergiusz. Current concepts on epilepsy management in tuberous sclerosis complex. Country unknown/Code not available: N. p., 2018. Web. doi:10.1002/ajmg.c.31652.
Canevini, Maria Paola, Kotulska‐Jozwiak, Katarzyna, Curatolo, Paolo, La Briola, Francesca, Peron, Angela, Słowińska, Monika, Strzelecka, Jolanta, Vignoli, Aglaia, & Jóźwiak, Sergiusz. Current concepts on epilepsy management in tuberous sclerosis complex. Country unknown/Code not available. https://doi.org/10.1002/ajmg.c.31652
Canevini, Maria Paola, Kotulska‐Jozwiak, Katarzyna, Curatolo, Paolo, La Briola, Francesca, Peron, Angela, Słowińska, Monika, Strzelecka, Jolanta, Vignoli, Aglaia, and Jóźwiak, Sergiusz. Wed . "Current concepts on epilepsy management in tuberous sclerosis complex". Country unknown/Code not available. https://doi.org/10.1002/ajmg.c.31652.
@article{osti_1524464,
title = {Current concepts on epilepsy management in tuberous sclerosis complex},
author = {Canevini, Maria Paola and Kotulska‐Jozwiak, Katarzyna and Curatolo, Paolo and La Briola, Francesca and Peron, Angela and Słowińska, Monika and Strzelecka, Jolanta and Vignoli, Aglaia and Jóźwiak, Sergiusz},
abstractNote = {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.},
doi = {10.1002/ajmg.c.31652},
journal = {American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
number = 3,
volume = 178,
place = {Country unknown/Code not available},
year = {Wed Sep 26 00:00:00 EDT 2018},
month = {Wed Sep 26 00:00:00 EDT 2018}
}

Journal Article:
Free Publicly Available Full Text
Publisher's Version of Record
https://doi.org/10.1002/ajmg.c.31652

Citation Metrics:
Cited by: 26 works
Citation information provided by
Web of Science

Save / Share:

Works referenced in this record:

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants
journal, January 2016


Low glycemic index treatment for epilepsy in tuberous sclerosis complex
journal, March 2012


Clinical Progress of Epilepsy in Children with Tuberous Sclerosis: Prognostic Factors for Seizure Outcome
journal, January 2011


Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex
journal, January 2012

  • Perek-Polnik, Marta; Jóźwiak, Sergiusz; Jurkiewicz, Elżbieta
  • European Journal of Paediatric Neurology, Vol. 16, Issue 1
  • DOI: 10.1016/j.ejpn.2011.09.006

Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation: Fetal Brain Lesions and TSC
journal, August 2012


Central TSC2 missense mutations are associated with a reduced risk of infantile spasms
journal, January 2013


Mechanistic Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy
journal, March 2015


Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
journal, April 2008

  • Zeng, Ling-Hui; Xu, Lin; Gutmann, David H.
  • Annals of Neurology, Vol. 63, Issue 4
  • DOI: 10.1002/ana.21331

The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis
journal, May 2006

  • Coppola, Giangennaro; Klepper, Jörg; Ammendola, Eduardo
  • European Journal of Paediatric Neurology, Vol. 10, Issue 3
  • DOI: 10.1016/j.ejpn.2006.03.001

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
journal, January 2018

  • Słowińska, Monika; Jóźwiak, Sergiusz; Peron, Angela
  • Orphanet Journal of Rare Diseases, Vol. 13, Issue 1
  • DOI: 10.1186/s13023-018-0764-z

Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study
journal, November 2016

  • Samueli, Sharon; Abraham, Klaus; Dressler, Anastasia
  • Orphanet Journal of Rare Diseases, Vol. 11, Issue 1
  • DOI: 10.1186/s13023-016-0530-z

mTOR dysregulation and tuberous sclerosis-related epilepsy
journal, January 2018

  • Curatolo, Paolo; Moavero, Romina; van Scheppingen, Jackelien
  • Expert Review of Neurotherapeutics, Vol. 18, Issue 3
  • DOI: 10.1080/14737175.2018.1428562

Influence of seizures on early development in tuberous sclerosis complex
journal, May 2017


Levetiracetam as Adjunctive Antiepileptic Therapy for Patients with Tuberous Sclerosis Complex: A Retrospective Open-Label Trial
journal, January 2006


The Pharmacological Basis of Cannabis Therapy for Epilepsy
journal, January 2016

  • Reddy, D. S.; Golub, V. M.
  • Journal of Pharmacology and Experimental Therapeutics, Vol. 357, Issue 1
  • DOI: 10.1124/jpet.115.230151

Prevention of Epileptogenesis—A New Goal for Epilepsy Therapy
journal, December 2014


Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs
journal, June 2015

  • Overwater, Iris E.; Bindels-de Heus, Karen; Rietman, André B.
  • Epilepsia, Vol. 56, Issue 8
  • DOI: 10.1111/epi.13050

Refractory epilepsy in tuberous sclerosis: Vagus nerve stimulation with or without subsequent resective surgery
journal, November 2009


Genotype/Phenotype Correlations in Tuberous Sclerosis Complex
journal, December 2015

  • Curatolo, Paolo; Moavero, Romina; Roberto, Denis
  • Seminars in Pediatric Neurology, Vol. 22, Issue 4
  • DOI: 10.1016/j.spen.2015.10.002

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex: Cerebral Tuber Count and Mental Outcome
journal, January 2011


Surgical treatment for epilepsy in 17 children with tuberous sclerosis-related West syndrome
journal, August 2012


Tuberous Sclerosis: Surgical Therapy for Seizures
journal, November 1966


Epilepsy in newborns with tuberous sclerosis complex
journal, November 2014

  • Kotulska, Katarzyna; Jurkiewicz, Elżbieta; Domańska-Pakieła, Dorota
  • European Journal of Paediatric Neurology, Vol. 18, Issue 6
  • DOI: 10.1016/j.ejpn.2014.06.009

Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex
journal, February 2010


Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
journal, July 2018

  • Peron, Angela; Vignoli, Aglaia; Briola, Francesca La
  • European Journal of Medical Genetics, Vol. 61, Issue 7
  • DOI: 10.1016/j.ejmg.2018.02.005

Lamotrigine Therapy of Epilepsy in Tuberous Sclerosis
journal, July 2001


Epilepsy surgery in tuberous sclerosis complex: early predictive elements and outcome
journal, August 2008


Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex
journal, September 2011

  • Jóźwiak, Sergiusz; Kotulska, Katarzyna; Domańska-Pakieła, Dorota
  • European Journal of Paediatric Neurology, Vol. 15, Issue 5
  • DOI: 10.1016/j.ejpn.2011.03.010

Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity
journal, January 2009

  • Jammoul, Firas; Wang, Qingping; Nabbout, Rima
  • Annals of Neurology, Vol. 65, Issue 1
  • DOI: 10.1002/ana.21526

Distinctive MRI features of the epileptogenic zone in children with tuberous sclerosis
journal, April 2014


Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis
journal, December 2011


Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex
journal, October 2016

  • Hess, Evan J.; Moody, Kirsten A.; Geffrey, Alexandra L.
  • Epilepsia, Vol. 57, Issue 10
  • DOI: 10.1111/epi.13499

Centre of epileptogenic tubers generate and propagate seizures in tuberous sclerosis
journal, August 2016

  • Kannan, Lakshminarayanan; Vogrin, Simon; Bailey, Catherine
  • Brain, Vol. 139, Issue 10
  • DOI: 10.1093/brain/aww192

Ketogenic Diet for the Management of Epilepsy Associated with Tuberous Sclerosis Complex in Children
journal, June 2017

  • Park, Soyoung; Lee, Eun Joo; Eom, Soyong
  • Journal of Epilepsy Research, Vol. 7, Issue 1
  • DOI: 10.14581/jer.17008

The natural history of epilepsy in tuberous sclerosis complex: Epilepsy in TSC
journal, December 2009


Epilepsy Surgery in Tuberous Sclerosis: A Systematic Review: EPILEPSY SURGERY IN TUBEROUS SCLEROSIS
journal, May 2007


Severity of manifestations in tuberous sclerosis complex in relation to genotype
journal, June 2014

  • Kothare, Sanjeev V.; Singh, Kanwaljit; Chalifoux, Jason R.
  • Epilepsia, Vol. 55, Issue 7
  • DOI: 10.1111/epi.12680

Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures
journal, August 2018


EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients – A prospective study of 5 patients
journal, July 2014

  • Domańska-Pakieła, D.; Kaczorowska, M.; Jurkiewicz, E.
  • European Journal of Paediatric Neurology, Vol. 18, Issue 4
  • DOI: 10.1016/j.ejpn.2013.12.006

Lacosamide use in the treatment of refractory epilepsy in tuberous sclerosis complex
journal, May 2015


Consistent Localization of Interictal Epileptiform Activity on EEGs of Patients with Tuberous Sclerosis Complex
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
journal, September 2013

  • Kotulska, Katarzyna; Chmielewski, Dariusz; Borkowska, Julita
  • European Journal of Paediatric Neurology, Vol. 17, Issue 5
  • DOI: 10.1016/j.ejpn.2013.03.002

Tubers, epileptogenic foci, and epileptogenic networks in tuberous sclerosis: GRAY MATTERS
journal, October 2010


Tuberous sclerosis complex
journal, May 2016

  • Henske, Elizabeth P.; Jóźwiak, Sergiusz; Kingswood, J. Christopher
  • Nature Reviews Disease Primers, Vol. 2, Issue 1
  • DOI: 10.1038/nrdp.2016.35

Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study
journal, July 2018

  • Benova, Barbora; Petrak, Borivoj; Kyncl, Martin
  • European Journal of Paediatric Neurology, Vol. 22, Issue 4
  • DOI: 10.1016/j.ejpn.2018.03.001

Vagus Nerve Stimulation for Refractory Epilepsy in Tuberous Sclerosis
journal, July 2010


White matter disruption is associated with persistent seizures in tuberous sclerosis complex
journal, July 2016


Cognitive deficits in Tsc1 +/− mice in the absence of cerebral lesions and seizures
journal, December 2007

  • Goorden, Susanna M. I.; van Woerden, Geeske M.; van der Weerd, Louise
  • Annals of Neurology, Vol. 62, Issue 6
  • DOI: 10.1002/ana.21317

Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex: Case Report With Molecular Confirmation
journal, December 2005

  • Jóźwiak, Sergiusz; Domańska-Pakieła, Dorota; Kwiatkowski, David J.
  • Journal of Child Neurology, Vol. 20, Issue 12
  • DOI: 10.1177/08830738050200121101

Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome
journal, November 2017


Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations
journal, November 2012

  • Curatolo, Paolo; Jóźwiak, Sergiusz; Nabbout, Rima
  • European Journal of Paediatric Neurology, Vol. 16, Issue 6
  • DOI: 10.1016/j.ejpn.2012.05.004

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome
journal, March 2017


Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex
journal, August 2008


Neurological and neuropsychiatric aspects of tuberous sclerosis complex
journal, July 2015


Infantile spasms: A U.S. consensus report: Infantile Spasms
journal, July 2010


Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis: A retrospective cohort study
journal, December 2017


Epilepsy in TSC: Certain etiology does not mean certain prognosis
journal, November 2013

  • Vignoli, Aglaia; Briola, Francesca La; Turner, Katherine
  • Epilepsia, Vol. 54, Issue 12
  • DOI: 10.1111/epi.12430

Long-term treatment of epilepsy with everolimus in tuberous sclerosis
journal, November 2016


Mechanisms of epileptogenesis and potential treatment targets
journal, February 2011


Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures
journal, May 2018

  • Franz, David N.; Lawson, John A.; Yapici, Zuhal
  • Epilepsia, Vol. 59, Issue 6
  • DOI: 10.1111/epi.14085

Clobazam therapy of refractory epilepsy in tuberous sclerosis complex
journal, May 2013


Refractory spasms of focal onset—A potentially curable disease that should lead to rapid surgical evaluation
journal, October 2017


Tuberous Sclerosis Complex and the Ketogenic Diet
journal, October 2005


Discontinuing the Ketogenic Diet in Seizure-Free Children: Recurrence and Risk Factors
journal, January 2007


Tumor growth in patients with tuberous sclerosis complex on the ketogenic diet
journal, April 2010


Autistic regression associated with seizure onset in an infant with tuberous sclerosis
journal, July 2006


Everolimus treatment of refractory epilepsy in tuberous sclerosis complex: Everolimus for Epilepsy in TSC
journal, September 2013

  • Krueger, Darcy A.; Wilfong, Angus A.; Holland-Bouley, Katherine
  • Annals of Neurology, Vol. 74, Issue 5
  • DOI: 10.1002/ana.23960

Cognitive impairment in tuberous sclerosis complex is a multifactorial condition
journal, November 2007


Long-term High Fat Ketogenic Diet Promotes Renal Tumor Growth in a Rat Model of Tuberous Sclerosis
journal, February 2016

  • Liśkiewicz, Arkadiusz D.; Kasprowska, Daniela; Wojakowska, Anna
  • Scientific Reports, Vol. 6, Issue 1
  • DOI: 10.1038/srep21807

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions
journal, February 2016


Cost-utility analysis of competing treatment strategies for drug-resistant epilepsy in children with Tuberous Sclerosis Complex
journal, October 2016


TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
journal, November 2003


Predictors of Drug-Resistant Epilepsy in Tuberous Sclerosis Complex
journal, November 2017

  • Jeong, Anna; Nakagawa, Jo Anne; Wong, Michael
  • Journal of Child Neurology, Vol. 32, Issue 14
  • DOI: 10.1177/0883073817737446

Vagus nerve stimulation in refractory epilepsy: New indications and outcome assessment
journal, September 2013

  • Marras, Carlo Efisio; Chiesa, Valentina; De Benedictis, Alessandro
  • Epilepsy & Behavior, Vol. 28, Issue 3
  • DOI: 10.1016/j.yebeh.2013.05.021

Rapamycin Reduces Seizure Frequency in Tuberous Sclerosis Complex
journal, January 2009

  • Muncy, Jennifer; Butler, Ian J.; Koenig, Mary Kay
  • Journal of Child Neurology, Vol. 24, Issue 4
  • DOI: 10.1177/0883073808324535

Role of mTOR inhibitors in epilepsy treatment
journal, June 2015

  • Sadowski, Krzysztof; Kotulska-Jóźwiak, Katarzyna; Jóźwiak, Sergiusz
  • Pharmacological Reports, Vol. 67, Issue 3
  • DOI: 10.1016/j.pharep.2014.12.017

Diffusion tensor imaging identifies changes in normal-appearing white matter within the epileptogenic zone in tuberous sclerosis complex
journal, May 2010


Surgical Outcome in Tuberous Sclerosis Complex: A Multicenter Survey: SURGICAL OUTCOME IN TUBEROUS SCLEROSIS COMPLEX
journal, May 2007


Akt Inhibitor Perifosine Prevents Epileptogenesis in a Rat Model of Temporal Lobe Epilepsy
journal, August 2017


Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges
journal, April 2010

  • Moavero, Romina; Cerminara, Caterina; Curatolo, Paolo
  • Child's Nervous System, Vol. 26, Issue 11
  • DOI: 10.1007/s00381-010-1128-8