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Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery

Catarino, CB; Kasperaviciute, D; Thom, M; Cavalleri, GL; Martinian, L; Heinzen, EL; Dorn, T; ... Sisodiya, SM; + view all (2011) Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery. Epilepsia , 52 (8) 1388 - 1392. 10.1111/j.1528-1167.2011.03087.x. Green open access

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Abstract

Purpose: Several recent reports of genomic microdeletions in epilepsy will generate further research; discovery of more microdeletions and other important classes of variants may follow. Detection of such genetic abnormalities in patients being evaluated for surgical treatment might raise concern that a genetic defect, possibly widely expressed in the brain, will affect surgical outcome.Methods: A reevaluation was undertaken of clinical presurgical data, histopathology of surgical specimen, and postsurgical outcome in patients with mesial temporal lobe epilepsy (MTLE) who have had surgical treatment for their drug-resistant seizures, and who have been found to have particular genomic microdeletions.Key Findings: Three thousand eight hundred twelve patients with epilepsy were genotyped and had a genome-wide screen to identify copy number variation. Ten patients with MTLE, who had resective epilepsy surgery, were found to have 16p13.11 microdeletions or other microdeletions >1 Mb. On histopathology, eight had classical hippocampal sclerosis (HS), one had nonspecific findings, and one had a hamartoma. Median postsurgical follow-up time was 48 months (range 10-156 months). All patients with HS were seizure-free after surgery, International League Against Epilepsy (ILAE) outcome class 1, at last follow-up; the patient with nonspecific pathology had recurrence of infrequent seizures after 7 years of seizure freedom. The patient with a hamartoma never became seizure-free.Significance: Large microdeletions can be found in patients with "typical" MTLE. In this small series, patients with MTLE who meet criteria for resective surgery and harbor large microdeletions, at least those we have detected, can have a good postsurgical outcome. Our findings add to the spectrum of causal heterogeneity of MTLE + HS.

Type: Article
Title: Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/j.1528-1167.2011.03087.x
Publisher version: http://dx.doi.org/10.1111/j.1528-1167.2011.03087.x
Language: English
Additional information: This work is made available under a Creative Commons license.
Keywords: Epilepsy surgery, Hippocampal sclerosis, Temporal lobectomy, Deletions, TEMPORAL-LOBE EPILEPSY, IDIOPATHIC GENERALIZED EPILEPSIES, HIPPOCAMPAL SCLEROSIS, 16P13.11 PREDISPOSE, LOBECTOMY, PREDICTORS, SUSCEPTIBILITY, MULTICENTER, FEATURES, OUTCOMES
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
URI: https://discovery.ucl.ac.uk/id/eprint/1309513
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