Article
Clinical Neurology
Krzysztof Sadowski, Kamil Sijko, Dorota Domanska-Pakiela, Julita Borkowska, Dariusz Chmielewski, Agata Ulatowska, Sergiusz Jozwiak, Katarzyna Kotulska
Summary: Rapamycin can be used to treat drug-resistant epilepsy in children with TSC, and can effectively reduce the frequency of seizures at a certain dosage. The combination with vigabatrin has better efficacy.
FRONTIERS IN NEUROLOGY
(2022)
Article
Medicine, General & Internal
Marie Monaghan, Pooja Takhar, Luke Langlands, Markus Knuf, Sam Amin
Summary: Tuberous Sclerosis Complex (TSC) is a genetic condition that results in the loss of inhibition of cellular growth. Facial angiofibromas (FAs) are hamartomatous growths associated with TSC that appear as multiple small, erythematous papules on the skin of the face and may have psychosocial impacts such as anxiety and depression. A survey study found that FAs have an impact on quality of life and psychosocial well-being for TSC patients with moderate or severe FAs.
FRONTIERS IN MEDICINE
(2022)
Article
Clinical Neurology
Rima Nabbout, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augeres, Petrus J. de Vries, Jose C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Finbar O'Callaghan, Jiong Qin, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, J. Chris Kingswood
Summary: The study reveals a high prevalence of epilepsy and less severe epilepsy phenotypes associated with TSC1 mutations in TSC individuals. Vigabatrin is recommended as first-line treatment for infantile spasms, but further research is needed to improve therapies for focal seizures.
FRONTIERS IN NEUROLOGY
(2021)
Review
Behavioral Sciences
Romina Moavero, Angelika Muhlebner, Mark Jasper Luinenburg, Dana Craiu, Eleonora Aronica, Paolo Curatolo
Summary: Tuberous sclerosis complex (TSC) is a genetic disease that affects multiple organs and systems, with a high risk of early onset and refractory seizures. The overactivation of the mammalian Target of Rapamycin (mTOR) complex is the main cause of TSC-related manifestations. mTOR inhibitors such as rapamycin and everolimus have shown potential in suppressing seizures and preventing epilepsy development in animal models. Everolimus has been approved for the treatment of refractory seizures associated with TSC, with better efficacy in younger children. Early suppression of abnormal mTOR signaling with mTOR inhibitors may be a more effective approach in treating TSC-related epilepsy.
EPILEPSY & BEHAVIOR
(2022)
Article
Clinical Neurology
C. Vannicola, L. Tassi, C. Barba, C. Boniver, M. Cossu, M. de Curtis, L. De Palma, I D'Errico, G. Didato, R. Guerrini, F. La Briola, C. Luisi, R. Mai, F. Mari, C. Marras, M. Mastrangelo, A. Peron, N. Specchio, I Toldo, K. Turner, A. Vignoli, M. P. Canevini
Summary: Epilepsy surgery in patients with Tuberous Sclerosis Complex (TSC) has shown improved seizure outcomes in the last 10 years, with nearly half achieving seizure freedom post-operatively. Factors associated with poorer outcomes included a high number of cortical tubers, presence of subependymal nodules, early seizure onset, and multifocal interictal epileptic discharges on EEG.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Charlotte Tye, Fiona S. McEwen, Holan Liang, Emma Woodhouse, Lisa Underwood, Elizabeth Shephard, Edward D. Barker, Fintan Sheerin, Nicholas Higgins, Juul Steenbruggen, Patrick Bolton
Summary: This study found an association between attention-deficit/hyperactivity disorder (ADHD) and tuberous sclerosis complex (TSC), which may be mediated by epilepsy. The researchers also identified a developmental pathway from genetic mutation to cortical tuber load to epileptic spasm severity in infancy, ultimately leading to ADHD symptoms in middle childhood and adolescence.
Review
Neurosciences
Tadayuki Shimada, Kanato Yamagata
Summary: Tuberous sclerosis complex (TSC) is associated with the activation of Rheb1, which affects dendritic spine morphology and synaptic structure, leading to symptoms such as epilepsy, intellectual disability, and autism.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Clinical Neurology
Qian Lu, Yang-Yang Wang, Qiu-Hong Wang, Li-Na Tang, Xiao-Yan Yang, Shuo Dun, Li-Ping Zou
Summary: This study shows that the inactivated COVID-19 vaccine is well tolerated and safe in patients with tuberous sclerosis complex (TSC) and those treated with mTOR inhibitors.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Article
Clinical Neurology
Jessie De Ridder, Birgit Verhelle, Jan Vervisch, Katrien Lemmens, Katarzyna Kotulska, Romina Moavero, Paolo Curatolo, Bernhard Weschke, Kate Riney, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Konrad Wojdan, Dorota Domanska-Pakiela, Magdalena Kaczorowska-Frontczak, Christoph Hertzberg, Cyrille H. Ferrier, Sharon Samueli, Barbora Benova, Eleonora Aronica, David J. Kwiatkowski, Floor E. Jansen, Sergiusz Jozwiak, Lieven Lagae
Summary: The timing and characteristics of the first electroencephalography (EEG) with epileptiform discharges (ED-EEG) are associated with epilepsy and neurodevelopment at 24 months in infants with tuberous sclerosis complex (TSC). Early recording of ED-EEG can help identify TSC infants at risk of severe epilepsy and those who may benefit from preventive treatment with vigabatrin.
Article
Neurosciences
Xia Wang, Ji Wang, Xiaonan Du, Lifei Yu, Yuanfeng Zhou, Shuizhen Zhou, Yi Wang, Yifeng Ding
Summary: Telemedicine visits have many benefits for children with tuberous sclerosis complex, including reducing emergency visits, hospitalizations, and adverse effects, especially for patients treated with sirolimus. Younger age, living in remote areas, and higher education levels of mothers are associated with a higher likelihood of accepting telemedicine.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Article
Medicine, General & Internal
Malgorzata Forys-Basiejko, Katarzyna Kotulska, Agnieszka Maryniak, Agata Siluszyk, Monika Szkop, Julita Borkowska, Monika Sugalska, Jagoda Glowacka-Walas, Sergiusz Jozwiak
Summary: This study assessed language development in infants and toddlers with tuberous sclerosis complex (TSC) and epilepsy, showing that the duration of seizures and the number of antiepileptic drugs used have an impact on language development. Children with TSC who have longer epilepsy duration and receive more antiepileptic drugs are at a greater risk of language development delay.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Clinical Neurology
Matthew Lynch, Kirsty Smith, Kate Riney
Summary: The accuracy of parental seizure detection in infants with antenatally diagnosed tuberous sclerosis complex (TSC) was assessed, and the total seizure burden was documented in patients who met criteria for prolonged electroencephalography (EEG) recording. The study found that parents significantly underestimate the clinical seizure count, fail to identify epileptic spasms, and the seizure frequency is high. Therefore, prolonged vEEG monitoring may play an important role in the routine epilepsy care of infants with TSC.
Article
Clinical Neurology
Gewalin Aungaroon, Amar Mehta, Paul S. Horn, David N. Franz
Summary: This study evaluates the efficacy and tolerability of stiripentol (STP) in patients with tuberous sclerosis complex (TSC) and drug-resistant epilepsy (DRE). The results show that approximately 46% of the patients had favorable outcomes, and younger age, early STP treatment, higher doses, and higher baseline seizure frequency were significantly associated with favorable outcomes.
PEDIATRIC NEUROLOGY
(2023)
Article
Clinical Neurology
David N. Franz, John A. Lawson, Zuhal Yapici, Hiroko Ikeda, Tilman Polster, Rima Nabbout, Paolo Curatolo, Petrus J. Vries, Dennis J. Dlugos, Fabian Herbst, Severine Peyrard, Diana Pelov, Jacqueline A. French
Summary: The study demonstrated the sustained efficacy of everolimus as adjunctive therapy for treatment-resistant seizures in patients with TSC, with a tolerable safety profile.
Article
Clinical Neurology
Lin Wan, Wen He, Yang-Yang Wang, Yong Xu, Qian Lu, Meng-Na Zhang, Qiu-Hong Wang, Shuo Dun, Li-Ying Liu, Xiu-Yu Shi, Jing Wang, Lin-Yan Hu, Bo Zhang, Guang Yang, Li-Ping Zou
Summary: This study observed the occurrences of vigabatrin-associated brain abnormalities in patients with infantile spasms and explored the risk factors. The results showed a significantly lower incidence of these abnormalities in patients with tuberous sclerosis complex, and the use of rapamycin was associated with a lower risk.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2022)