Genomics in the presurgical epilepsy evaluation

Moloney, Patrick; Dugan, Patricia; Widdess‐Walsh, Peter; Devinsky, Orrin; Delanty, Norman

doi:10.1016/j.eplepsyres.2022.106951

Cited by 12 publications

(2 citation statements)

References 122 publications

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“…Hypotheses include aberrant activity in distributed brain networks involving but not restricted to the region of the resected tissue, 20 , 34 , 35 , 36 , 37 or the effects of genetic variants present throughout the brain. 38 , 39 "Temporal‐lobe plus" epilepsy (TPE), with an epileptogenic zone extending beyond the temporal lobe identified by stereo‐electroencephalography, has been associated with recurrence in HS and nonlesional cases. 20 , 31 It is also possible that new seizure mechanisms evolve over time.…”

Section: Discussionmentioning

confidence: 99%

Extended follow‐up after anterior temporal lobectomy demonstrates seizure recurrence 20+ years postsurgery

2022

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Objective: Anterior temporal lobectomy (ATL) for medication-resistant localized epilepsy results in ablation or reduction of seizures for most patients. However, some individuals who attain an initial extended period of postsurgical seizure freedom will experience a later seizure recurrence. In this study, we examined the prevalence and some risk factors for late recurrence in an ATL cohort with extensive regular follow-up.Methods: Included were 449 patients who underwent ATL at Austin Health, Australia, from 1978 to 2008. Postsurgical follow-up was undertaken 2-3 yearly.Seizure recurrence was tested using Kaplan-Meier analysis, log-rank test, and Cox regression. Late recurrence was qualified as a first disabling seizure >2 years postsurgery. We examined risks within the ATL cohort according to broad pathology groups and tested whether late recurrence differed for the ATL cohort compared to patients who had resections outside the temporal lobe (n = 98).Results: Median post-ATL follow-up was 22 years (range = .1-38.6), 6% were lost to follow-up, and 12% had died. Probabilities for remaining completely seizurefree after surgery were 51% (95% confidence interval [CI] = 53-63) at 2 postoperative years, 36% (95% CI = 32-41) at 10 years, 32% (95% CI = 27-36) at 20 years, and 30% (95% CI = 25-34) at 25 years. Recurrences were reported up to 23 years postoperatively. Late seizures occurred in all major ATL pathology groups, with increased risk in the "normal" and "distant lesion" groups (p ≤ .03). Comparison between the ATL cohort and patients who underwent extratemporal resection demonstrated similar patterns of late recurrence (p = .74).Significance: Some first recurrences were very late, reported decades after ATL. Late recurrences were not unique to any broad ATL pathology group and did not differ according to whether resections were ATL or extratemporal. Reports of these events by patients with residual pathology suggest that potentially epileptogenic abnormalities outside the area of resection may be implicated as one of several possible underlying mechanisms.

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Section: Discussionmentioning

confidence: 99%

Extended follow‐up after anterior temporal lobectomy demonstrates seizure recurrence 20+ years postsurgery

2022

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“…In addition to this diagnostic utility, genetic testing can provide also prognostic and clinical management information. For example, epilepsy surgeries have less favorable outcomes in patients with pathogenic variants in ion channel genes such as SCN1A [66].…”

Section: Importance and Limitations Of Genetic Testing In Epilepsymentioning

confidence: 99%

Complexity in Genetic Epilepsies: A Comprehensive Review

Rastin,

Schenkel,

Sadikovic

2023

IJMS

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Epilepsy is a highly prevalent neurological disorder, affecting between 5–8 per 1000 individuals and is associated with a lifetime risk of up to 3%. In addition to high incidence, epilepsy is a highly heterogeneous disorder, with variation including, but not limited to the following: severity, age of onset, type of seizure, developmental delay, drug responsiveness, and other comorbidities. Variable phenotypes are reflected in a range of etiologies including genetic, infectious, metabolic, immune, acquired/structural (resulting from, for example, a severe head injury or stroke), or idiopathic. This review will focus specifically on epilepsies with a genetic cause, genetic testing, and biomarkers in epilepsy.

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The Role of Ion Channel in Epilepsy Including SUDEP Cases

Akyuz,

Aslan

2024

Handbook of Neurodegenerative Disorders

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Genomics in the presurgical epilepsy evaluation

Cited by 12 publications

References 122 publications

Extended follow‐up after anterior temporal lobectomy demonstrates seizure recurrence 20+ years postsurgery

Extended follow‐up after anterior temporal lobectomy demonstrates seizure recurrence 20+ years postsurgery

Complexity in Genetic Epilepsies: A Comprehensive Review

The Role of Ion Channel in Epilepsy Including SUDEP Cases

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