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Epilepsia. 2015 Nov;56(11):1669-86. doi: 10.1111/epi.13200. Epub 2015 Oct 5.

Diagnostic methods and treatment options for focal cortical dysplasia.

Author information

  • 1Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital Meyer-University of Florence, Florence, Italy.
  • 2IRCCS Stella Maris Foundation, Pisa, Italy.
  • 3Neuroscience Program and the Comprehensive Epilepsy Center, Miami Children's Hospital, Miami, Florida, U.S.A.
  • 4Department of Neurology, Miami Children's Hospital, Miami, Florida, U.S.A.
  • 5Department of Pediatric Neurology, 2nd Faculty of Medicine, Motol University Hospital, Charles University, Prague, Czech Republic.
  • 6INSERM U836, University of Grenoble Alpes, GIN, Grenoble, France.
  • 7Epilepsy Unit, Michallon Hospital, Grenoble, France.
  • 8Epilepsy Surgery Center, Niguarda Hospital, Milan, Italy.
  • 9Department of Child Neurology, Bethel Epilepsy Center, Bielefeld, Germany.
  • 10UCB Pharma, Neurosciences Therapeutic Area, Braine-l'Alleud, Belgium.
  • 11Intellectual and Developmental Disabilities Research Center, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, U.S.A.
  • 12Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, U.S.A.
  • 13UCL-Institute of Child Health, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • 14Young Epilepsy, Lingfield, United Kingdom.
  • 15Clinical Epileptology and Experimental Neurophysiology Unit, Neurological InstituteC. Besta", Milan, Italy.
  • 16Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
  • 17Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • 18Epilepsy Unit, Sainte-Anne Hospital, Paris, France.
  • 19Department of Clinical Neurosciences, CHUV, Lausanne, Switzerland.
  • 20Translational and Integrative Group in Epilepsy Research (TIGER) and Institute for Epilepsies (IDEE), Lyon's Neuroscience Center, INSERM U1028, CNRS 5292, UCBL, Le Vinatier Hospital, Bron, Lyon, France.
  • 21Faculty of Medicine, INSERM, U1106, Institute of Neurosciences of Systems, Marseille, France.
  • 22Faculty of Medicine, Aix Marseille University, Marseille, France.
  • 23Clinical Neurophysiology Unit, Department of Clinical Neurosciences, CHU Timone, Marseille, France.
  • 24Henri-Gastaut Hospital, Saint-Paul Center, Marseille, France.
  • 25Neuroimaging of Epilepsy Laboratory, McConnell Brain Imaging Center, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • 26Epilepsy Center Erlangen (ZEE), University Erlangen-Nürnberg, Erlangen, Germany.
  • 27Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children's Hospital, Miami, Florida, U.S.A.
  • 28Neurosurgery Department, Sainte-Anne Hospital, Paris, France.
  • 29Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, U.S.A.
  • 30Pediatric Neurosurgery Unit, Children's Hospital Meyer-University of Florence, Florence, Italy.
  • 31Laboratory for Clinical and Experimental Neurophysiology, Neurobiology and Neuropsychology, Department of Neurology, Ghent University, Ghent, Belgium.
  • 32Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany.

Abstract

Our inability to adequately treat many patients with refractory epilepsy caused by focal cortical dysplasia (FCD), surgical inaccessibility and failures are significant clinical drawbacks. The targeting of physiologic features of epileptogenesis in FCD and colocalizing functionality has enhanced completeness of surgical resection, the main determinant of outcome. Electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) and magnetoencephalography are helpful in guiding electrode implantation and surgical treatment, and high-frequency oscillations help defining the extent of the epileptogenic dysplasia. Ultra high-field MRI has a role in understanding the laminar organization of the cortex, and fluorodeoxyglucose-positron emission tomography (FDG-PET) is highly sensitive for detecting FCD in MRI-negative cases. Multimodal imaging is clinically valuable, either by improving the rate of postoperative seizure freedom or by reducing postoperative deficits. However, there is no level 1 evidence that it improves outcomes. Proof for a specific effect of antiepileptic drugs (AEDs) in FCD is lacking. Pathogenic mutations recently described in mammalian target of rapamycin (mTOR) genes in FCD have yielded important insights into novel treatment options with mTOR inhibitors, which might represent an example of personalized treatment of epilepsy based on the known mechanisms of disease. The ketogenic diet (KD) has been demonstrated to be particularly effective in children with epilepsy caused by structural abnormalities, especially FCD. It attenuates epigenetic chromatin modifications, a master regulator for gene expression and functional adaptation of the cell, thereby modifying disease progression. This could imply lasting benefit of dietary manipulation. Neurostimulation techniques have produced variable clinical outcomes in FCD. In widespread dysplasias, vagus nerve stimulation (VNS) has achieved responder rates >50%; however, the efficacy of noninvasive cranial nerve stimulation modalities such as transcutaneous VNS (tVNS) and noninvasive (nVNS) requires further study. Although review of current strategies underscores the serious shortcomings of treatment-resistant cases, initial evidence from novel approaches suggests that future success is possible.

Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

KEYWORDS:

Drug resistance; EEG; Epilepsy surgery; Epileptogenesis; Focal cortical dysplasia; MRI; PET

PMID:
26434565
[PubMed - indexed for MEDLINE]
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