Fast Ripples as a Biomarker of Epileptogenic Tuber in Tuberous Sclerosis Complex Patients Using Stereo-Electroencephalograph

Objectives: To evaluate the value of fast ripples (FRs) (200–500 Hz) recorded with stereo-electroencephalograph (SEEG) in the localization of epileptogenic tubers in patients with tuberous sclerosis complex (TSC).Methods: Seventeen TSC patients who underwent preoperative SEEG examination and resective epilepsy surgery were retrospectively enrolled. They were divided into two groups according to the seizure control at 1-year postoperative follow-up. The occurrence frequencies of FRs were automatically counted, and the FR rate was calculated. The high FR rate was defined as FR rate ≧0.5. According to different positions, the contacts’ locations were divided into three groups: inner of the tubers, the junction region of the tubers, and out of the tubers. The influence factors of postoperative seizure freedom were also analyzed.Results: Twelve patients reached postoperative seizure freedom at 1-year follow-up. In total, FRs were found in 24.2% of the contacts and 67.1% of the tubers in all assessed patients. There were 47 high FR rate contacts localized in the junction region of the tubers, which was 62.7% of the 75 high FR rate contacts in total and was 8.4% of the total 561 contacts localized in the junction region of the tubers. Total removal of epileptogenic tubers and total resection of the high FR rate tubers/contacts were associated with postoperative seizure freedom (P < 0.05).Conclusion: FRs could be extensively detected in TSC patients using SEEG, and high FR rate contacts were mostly localized in the junction region of the epileptogenic tuber, which could aid in the localization of epileptogenic tubers.

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Resective epilepsy surgery in tuberous sclerosis complex: a nationwide multicentre retrospective study from China

Brain ◽

10.1093/brain/awz411 ◽

2020 ◽

Vol 143 (2) ◽

pp. 570-581 ◽

Cited By ~ 5

Author(s):

Shiyong Liu ◽

Tao Yu ◽

Yuguang Guan ◽

Kai Zhang ◽

Ping Ding ◽

...

Keyword(s):

Quality Of Life ◽

Tuberous Sclerosis ◽

Epilepsy Surgery ◽

Tuberous Sclerosis Complex ◽

Intelligence Quotient ◽

Influence Factors ◽

Seizure Freedom ◽

Postoperative Seizure

Abstract At least 50% of patients with tuberous sclerosis complex present with intractable epilepsy; for these patients, resective surgery is a treatment option. Here, we report a nationwide multicentre retrospective study and analyse the long-term seizure and neuropsychological outcomes of epilepsy surgery in patients with tuberous sclerosis complex. There were 364 patients who underwent epilepsy surgery in the study. Patients’ clinical data, postoperative seizure outcomes at 1-, 4-, and 10-year follow-ups, preoperative and postoperative intelligence quotients, and quality of life at 1-year follow-up were collected. The patients’ ages at surgery were 10.35 ± 7.70 years (range: 0.5–47). The percentage of postoperative seizure freedom was 71% (258/364) at 1-year, 60% (118/196) at 4-year, and 51% (36/71) at 10-year follow-up. Influence factors of postoperative seizure freedom were the total removal of epileptogenic tubers and the presence of outstanding tuber on MRI at 1- and 4-year follow-ups. Furthermore, monthly seizure (versus daily seizure) was also a positive influence factor for postoperative seizure freedom at 1-year follow-up. The presence of an outstanding tuber on MRI was the only factor influencing seizure freedom at 10-year follow-up. Postoperative quality of life and intelligence quotient improvements were found in 43% (112/262) and 28% (67/242) of patients, respectively. Influence factors of postoperative quality of life and intelligence quotient improvement were postoperative seizure freedom and preoperative low intelligence quotient. The percentage of seizure freedom in the tuberectomy group was significantly lower compared to the tuberectomy plus and lobectomy groups at 1- and 4-year follow-ups. In conclusion, this study, the largest nationwide multi-centre study on resective epilepsy surgery, resulted in improved seizure outcomes and quality of life and intelligence quotient improvements in patients with tuberous sclerosis complex. Seizure freedom was often achieved in patients with an outstanding tuber on MRI, total removal of epileptogenic tubers, and tuberectomy plus. Quality of life and intelligence quotient improvements were frequently observed in patients with postoperative seizure freedom and preoperative low intelligence quotient.

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Natural history and CT scan follow-up of subependymal giant cell tumors in tuberous sclerosis complex patients

Journal of Clinical Neuroscience ◽

10.1016/j.jocn.2013.08.022 ◽

2014 ◽

Vol 21 (6) ◽

pp. 939-941 ◽

Cited By ~ 6

Author(s):

Miraude E.A.P.M. Adriaensen ◽

Bernard A. Zonnenberg ◽

Pim A. de Jong

Keyword(s):

Natural History ◽

Ct Scan ◽

Tuberous Sclerosis ◽

Giant Cell ◽

Tuberous Sclerosis Complex ◽

Giant Cell Tumors ◽

Complex Patients

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Renal manifestations of tuberous sclerosis complex: patients’ and parents’ knowledge and routines for renal follow-up – a questionnaire study

BMC Nephrology ◽

10.1186/s12882-018-0835-3 ◽

2018 ◽

Vol 19 (1) ◽

Cited By ~ 5

Author(s):

I. Cockerell ◽

M. Guenin ◽

K. Heimdal ◽

M. Bjørnvold ◽

K. K. Selmer ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Questionnaire Study ◽

Complex Patients

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Long-term Follow-up Assessing Renal Angiomyolipoma Treatment Patterns, Morbidity, and Mortality: An Observational Study in Tuberous Sclerosis Complex Patients in the Netherlands

American Journal of Kidney Diseases ◽

10.1053/j.ajkd.2015.05.016 ◽

2015 ◽

Vol 66 (4) ◽

pp. 638-645 ◽

Cited By ~ 53

Author(s):

Marinus J.C. Eijkemans ◽

Willem van der Wal ◽

Leida J. Reijnders ◽

Kit C.B. Roes ◽

Sahar Barjesteh van Waalwijk van Doorn-Khosrovani ◽

...

Keyword(s):

The Netherlands ◽

Observational Study ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Treatment Patterns ◽

Renal Angiomyolipoma ◽

Complex Patients ◽

Long Term Follow Up

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Effect of Gene Mutation on Seizures in Surgery for Tuberous Sclerosis Complex

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2020.185 ◽

2020 ◽

pp. 1-8

Author(s):

Srinivas Chivukula ◽

Omeed Modiri ◽

Alon Kashanian ◽

Diana Babayan ◽

George M. Ibrahim ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Epilepsy Surgery ◽

Tuberous Sclerosis Complex ◽

Seizure Control ◽

Genetic Disorder ◽

Genetic Mutation ◽

Infantile Spasms ◽

Seizure Freedom ◽

Drug Resistant Epilepsy ◽

Independent Effects

ABSTRACT: Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder that commonly leads to drug-resistant epilepsy in affected patients. This study aimed to determine whether the underlying genetic mutation (TSC1 vs. TSC2) predicts seizure outcomes following surgical treatments for epilepsy. Methods: We retrospectively assessed TSC patients using the TSC Natural History Database core registry. Data review focused on outcomes in patients treated with surgical resection or vagus nerve stimulation. Results: A total of 42 patients with a TSC1 mutation, and 145 patients with a TSC2 mutation, were identified. We observed a distinct clinical phenotype: children with TSC2 mutations tended to be diagnosed with TSC at a younger age than those with a TSC1 mutation (p < 0.001), were more likely to have infantile spasms (p < 0.001), and to get to surgery at a later age (p = 0.003). Among this TSC2 cohort, seizure control following resective epilepsy surgery was achieved in less than half (47%) the study sample. In contrast, patients with TSC1 mutations tended to have more favorable postsurgical outcomes; seizure control was achieved in 66% of this group. Conclusion: TSC2 mutations result in a more severe epilepsy phenotype that is also less responsive to resective surgery. It is important to consider this distinct clinical disposition when counseling families preoperatively with respect to seizure freedom. Larger samples are required to better characterize the independent effects of genetic mutation, infantile spasms, and duration of epilepsy as they relate to seizure control following resective or neuromodulatory epilepsy surgery.

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Everolimus in adult tuberous sclerosis complex patients with epilepsy: Too late for success? A retrospective study

Epilepsia ◽

10.1111/epi.16829 ◽

2021 ◽

Vol 62 (3) ◽

pp. 785-794

Author(s):

Jakob Stockinger ◽

Adam Strzelczyk ◽

Andrea Nemecek ◽

Michal Cicanic ◽

Frank Bösebeck ◽

...

Keyword(s):

Retrospective Study ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Complex Patients ◽

Patients With Epilepsy

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Seizure Outcomes in Patients With Surgically Treated Cerebral Arteriovenous Malformations

Neurosurgery ◽

10.1227/neu.0000000000000919 ◽

2015 ◽

Vol 77 (5) ◽

pp. 762-768 ◽

Cited By ~ 16

Author(s):

Christian von der Brelie ◽

Matthias Simon ◽

Jonas Esche ◽

Johannes Schramm ◽

Azize Boström

Keyword(s):

Life Quality ◽

Seizure Outcome ◽

Seizure Freedom ◽

Common Symptom ◽

Extensive Resection ◽

Chronic Epilepsy ◽

Epilepsy Classification ◽

Drug Resistant Epilepsy ◽

Postoperative Seizure

Abstract BACKGROUND: Epilepsy is the second most common symptom in cerebral arteriovenous malformation (AVM) patients. The consecutive reduction of life quality is a clinically underrated problem because treatment usually focuses on the prevention of intracerebral hemorrhage. OBJECTIVE: To evaluate postoperative seizure outcome with the aim of more accurate counseling for postoperative seizure outcome. METHODS: From 1985 to 2012, 293 patients with an AVM were surgically treated by J.S. One hundred twenty-six patients with preoperative seizures or epilepsy could be identified; 103 of 126 had a follow-up of at least 12 months and were included in the analysis. The different epilepsy subtypes were categorized (sporadic seizures, chronic epilepsy, drug-resistant epilepsy [DRE]). Preoperative workup and surgical technique were evaluated. Seizure outcome was analyzed by using International League Against Epilepsy classification. RESULTS: Sporadic seizures were identified in 41% of patients (chronic epilepsy and DRE were identified in 36% and 23%, respectively). Detailed preoperative epileptological workup was done in 13%. Seizure freedom was achieved in 77% (79% at 5 years, 84% at 10 years). Outcome was significantly poorer in DRE cases. More extensive resection was performed in 11 cases with longstanding symptoms (>24 months) and resulted in better seizure outcome as well as the short duration of preoperative seizure history. CONCLUSION: Patients presenting with AVM-associated epilepsy have a favorable seizure outcome after surgical treatment. Long-standing epilepsy and the progress into DRE markedly deteriorate the chances to obtain seizure freedom and should be considered an early factor in establishing the indication for AVM removal.

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