Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review

Stevelink, Remi; Sanders, Maurits; Tuinman, Maarten P.; Brilstra, Eva H.; Koeleman, Bobby P. C.; Jansen, Floor E.; Braun, Kees P.J.

doi:10.1684/epd.2018.0959

Cited by 99 publications

(98 citation statements)

References 43 publications

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“…Refining further the biologic understanding of genetic epilepsies and its impact on epilepsy surgery will be essential to use these data for prediction of seizure outcomes, as epilepsy surgery outcomes have been shown to vary widely according to genetic mutation. 38 …”

Section: Discussionmentioning

confidence: 99%

Localization yield and seizure outcome in patients undergoing bilateral SEEG exploration

et al. 2018

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Summary Objective: We aimed to determine the rates and predictors of resection and seizure freedom after bilateral stereo-electroencephalography (SEEG) implantation. Methods: We reviewed 184 patients who underwent bilateral SEEG implantation (2009-2015). Noninvasive and invasive evaluation findings were collected. Outcomes of interest included subsequent resection and seizure freedom. Statistical analyses employed multivariable logistic regression and proportional hazard modeling. Preoperative and postoperative seizure frequency, severity, and quality of life scales were also compared. Results: Following bilateral SEEG implantation, 106 of 184 patients (58%) underwent resection. Single seizure type (P = 0.007), a family history of epilepsy (P = 0.003), 10 or more seizures per month (P = 0.004), lower number of electrodes (P = 0.02), or sentinel electrode placement (P = 0.04) was predictive of undergoing a resection, as were lack of nonlocalized (P < 0.0001) or bilateral (P < 0.0001) ictal-onset zones on SEEG. Twenty-six of 81 patients (32% with follow-up greater than 1 year) remained seizure-free. Predictors of seizure freedom were single seizure type (P = 0.01), short epilepsy duration (P = 0.008), use of 2 or fewer antiepileptic drugs (AEDs) at the time of surgery (P = 0.0006), primary localization hypothesis involving the frontal lobe (P = 0.002), sentinel electrode placement only (P = 0.02), and lack of overlap between ictal-onset zone and eloquent cortex (P = 0.04), along with epilepsy substrate histopathology (P = 0.007). Complete resection of a suspected focal cortical dysplasia showed a trend to increased likelihood of seizure freedom (P = 0.09). The 44 of 55 patients (80%) who underwent resection and experienced seizure recurrence had >50% seizure reduction, as opposed to 26 of 45 patients (58%) who continued medical therapy alone (P = 0.003). Seventy-two percent of patients had a clinically meaningful quality of life improvement (>10% decrease in the Quality of Life in Epilepsy [QOLIE-10] score) at 1 year. Significance: A strong preimplantation hypothesis of a suspected unifocal epilepsy increases the odds of resection and seizure freedom. We discuss a tailored approach, taking into account localization hypothesis and suspected epilepsy etiology in guiding implantation and subsequent surgical strategy.

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Section: Discussionmentioning

confidence: 99%

Localization yield and seizure outcome in patients undergoing bilateral SEEG exploration

et al. 2018

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“…In a review of 14 patients with ion channel and synaptic transmission variants, only two (14%) responded to surgery. 59 Importantly, patients with STXBP1 and SCN1A mutations did not improve even if focal lesions were present. 59 Contrary to these cellular processes, genetic variants leading to syndromic conditions and mTOR abnormalities had a positive response to epilepsy surgery.…”

Section: Dictating Treatment Based On Genetic Etiology Of Epilepsymentioning

confidence: 97%

“…59 Contrary to these cellular processes, genetic variants leading to syndromic conditions and mTOR abnormalities had a positive response to epilepsy surgery. 31,59 Specifically, variants in the mTOR pathway had a 58% rate of being seizure-free following surgery in patients with a germline mutation, and 83% were seizure-free with somatic mutations. 59…”

Section: Dictating Treatment Based On Genetic Etiology Of Epilepsymentioning

confidence: 99%

Genetic Testing in Epilepsy

Ritter

Holland

2020

Semin Neurol

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Because of next-generation sequencing and the discovery of many new causative genes, genetic testing in epilepsy patients has become widespread. Pathologic variants resulting in epilepsy cause a variety of changes that can be broadly classified into syndromic disorders (i.e., chromosomal abnormalities), metabolic disorders, brain malformations, and abnormal cellular signaling. Here, we review the available genetic testing, reasons to pursue genetic testing, common genetic causes of epilepsy, the data behind what patients are found to have genetic epilepsies based on current testing, and discussing these results with patients. We propose an algorithm for testing patients with epilepsy to maximize yield and limit costs based on their phenotype (including electroencephalography and magnetic resonance imaging findings), age of seizure onset, and presence of other neurologic comorbidities. Being able to discern which type of genetic testing to order, using that information to give targeted and cost-effective patient care, and interpreting results accurately will be a crucial skill for the modern neurologist.

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“…One effective way to study the mechanism of epilepsy is by combining genomics, proteomics, glycomics and other technical advantages. Only through this change can we advance epilepsy research and provide strong support for research and development of new antiepileptic drugs [ 22 , 23 ].…”

Section: Discussionmentioning

confidence: 99%

Anticonvulsant Activity of Halogen-Substituted Cinnamic Acid Derivatives and Their Effects on Glycosylation of PTZ-Induced Chronic Epilepsy in Mice

Cuan

Zhao

et al. 2017

Molecules

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Epilepsy is a common chronic neurological disorder disease, and there is an urgent need for the development of novel anticonvulsant drugs. In this study, the anticonvulsant activities and neurotoxicity of 12 cinnamic acid derivatives substituted by fluorine, chlorine, bromine, and trifluoromethyl groups were screened by the maximal electroshock seizure (MES) and rotarod tests (Tox). Three of the tested compounds (compounds 3, 6 and 12) showed better anticonvulsant effects and lower neurotoxicity. They showed respective median effective dose (ED50) of 47.36, 75.72 and 70.65 mg/kg, and median toxic dose (TD50) of them was greater than 500 mg/kg, providing better protective indices. Meanwhile, they showed a pentylenetetrazol (PTZ) ED50 value of 245.2, >300 and 285.2 mg/kg in mice, respectively. Especially, the most active compound 3 displayed a prominent anticonvulsant profile and had lower toxicity. Therefore, the antiepileptic mechanism of 3 on glycosylation changes in chronic epilepsy in mice was further investigated by using glycomics techniques. Lectin microarrays results showed that epilepsy was closely related to abnormal glycosylation, and 3 could reverse the abnormal glycosylation in scPTZ-induced epilepsy in mice. This work can provide new ideas for future discovery of potential biomarkers for evaluation of antiepileptic drugs based on the precise alterations of glycopatterns in epilepsy.

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Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review

Cited by 99 publications

References 43 publications

Localization yield and seizure outcome in patients undergoing bilateral SEEG exploration

Localization yield and seizure outcome in patients undergoing bilateral SEEG exploration

Genetic Testing in Epilepsy

Anticonvulsant Activity of Halogen-Substituted Cinnamic Acid Derivatives and Their Effects on Glycosylation of PTZ-Induced Chronic Epilepsy in Mice

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