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CNS and TAND

Parthasarathy S, Mahalingam R, Melchiorre J, Harowitz J, and Devinsky O. Mortality in tuberous sclerosis complex.  Epilepsy & Behavior 2021 Aug 1, Volume 121, 108032. https://doi.org/10.1016/j.yebeh.2021.108032

  • The authors of this brief communication found that sudden unexpected death in epilepsy (SUDEP) was the leading cause of death in the 31 individuals with TSC whose data they reviewed. They advise individuals with TSC and their families be counseled about antiseizure medication adherence and lifestyle factors, and the potential role of nighttime supervision or seizure detection devices to prevent SUDEP.

Chivukula S, Modiri O, Kashanian A, Babayan D, Ibrahim GM, Well AG, Tu A, Wu JY, Mathern GW, and Fallah A. Effect of gene mutation on seizures in surgery for tuberous sclerosis complex.  Can J Neurol Sci. 2021 May;48(3):327-334. doi: 10.1017/cjn.2020.185. Epub 2020 Aug 28.

  • This paper focused on outcomes in patients with TSC treated with surgical resection or vagus nerve stimulation. The authors’ retrospective data review suggested TSC2 mutations result in more severe epilepsy phenotype that is also less responsive to resective surgery.

Gupta A, de Bruyn G, Tousseyn S, Krishnan B, Lagae L, Agarwal N, and TSC Natural History Database Consortium. Epilepsy and neurodevelopmental comorbidities in tuberous sclerosis complex: A natural history study.   Pediatr Neurol. 2020 Feb 4[Online ahead of print] DOI: https://doi.org/10.1016/j.pediatrneurol.2019.12.016

  • This paper concludes that epilepsy remission by appropriate treatment in early life can possibly prevent autism and intellectual disability.

Song J, Swallow E, Said Q, Peeples M, Meiselbach M, Signorovitch J, Kohrman M, Korf B, Krueger D, Wong M, Sparagana S. Epilepsy treatment patterns among patients with tuberous sclerosis complex. J Neurol Sci. 2018;391:104-108. doi: 1016/j.jns.2018.06.011.

  • The authors found that over 64% of individuals in the database who were prescribed drugs for epilepsy used three or more antiepileptic drugs. Over 22% had epilepsy surgery after trying antiepileptic drugs, and 35% had additional surgery after the first epilepsy surgery.

Jeong A, Nakagawa JA, Wong M. Predictors of drug-resistant epilepsy in tuberous sclerosis complex. J Child Neurol. 2017;32(14):1092-1098. doi: 1177/0883073817737446.

  • The authors found that children with TSC who had infantile spasms and/or started having focal seizures before one year of age were more likely to have focal seizures that did not respond to antiepileptic drugs.

Jeong A, Wong M. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex. Epilepsia. 2016;57(9):1443-1449. doi: 1111/epi.13467.

  • The authors confirmed their hypothesis that systemic disease manifestations such as cardiac rhabdomyomas, renal and skin tumors were associated with the presence of epilepsy or infantile spasms.

Kothare SV, Singh K, Hochman T, Chalifoux JR, Staley BA, Weiner HL, Menzer K, Devinsky O. Genotype/phenotype in tuberous sclerosis complex: Associations with clinical and radiologic manifestations. Epilepsia. 2014;55(7):1020-1024. doi: 1111/epi.12627.

  • The authors evaluated the associations between the presence of SEGAs and neuropsychiatric disorders in a retrospective review of 916 patients enrolled in the TSC Natural History Database Project.

Kothare SV, Singh K, Chalifoux JR, Staley BA, Weiner HL, Menzer K, Devinsky O. Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 2014;55(7):1025-1029. doi: 1111/epi.12680.

  • The authors evaluated the association of the TSC1 and TSC2 gene mutations with patient and disease characteristics in a review of clinical data collected from 919 individuals who were enrolled in the TSC Natural History Database.

van Eeghen AM, Nellist M, van Eeghen EE, Thiele EA. Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. Epilepsy Res. 2013;103(1):83-87. doi:1016/j.eplepsyres.2012.07.007.

  • This paper reports on the analysis of epilepsy and DNA data from the TSC Alliance TSC database and the database of the Carol and James Herscot Center for Children and Adults with Tuberous Sclerosis Complex at Massachusetts General Hospital. The findings suggest that identifying distinct epilepsy characteristics for specific mutation subgroups may help identify relevant biomarkers (indicators), which will assist healthcare providers in making treatment decisions.

Ehninger D, Sano Y, de Vries PJ, Dies K, Franz D, Geschwind DH, Kaur M , Lee YS , Li W, Lowe JK, Nakagawa JA, Sahin M, Smith K, Whittemore V, Silva AJ. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Mol Psychiatry. 2012;17(1):62-70. doi: 1038/mp.2010.115.

  • This paper (the first to use information from the TSC Natural History Database) raises the possibility that exposure to viral infection may increase the risk of autism spectrum disorder in TSC.