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.

Clinical Epileptology and Experimental Neurophysiology Unit Neurological InstituteC Besta Milan Italy

Clinical Neurophysiology Unit Department of Clinical Neurosciences CHU Timone Marseille France

Department of Child Neurology Bethel Epilepsy Center Bielefeld Germany

Department of Clinical Neurosciences CHUV Lausanne Switzerland

Department of Neurology and Comprehensive Epilepsy Program Brain Institute Miami Children's Hospital Miami Florida U S A

Department of Neurology Miami Children's Hospital Miami Florida U S A

Department of Neuropathology University Hospital Erlangen Erlangen Germany

Department of Pediatric Neurology 2nd Faculty of Medicine Motol University Hospital Charles University Prague Czech Republic

Department of Translational Research and New Technologies in Medicine and Surgery University of Pisa Pisa Italy

Division of Neurology Department of Pediatrics Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio U S A

Epilepsy Center Erlangen University Erlangen Nürnberg Erlangen Germany

Epilepsy Center Neurological Institute Cleveland Clinic Cleveland OH U S A

Epilepsy Surgery Center Niguarda Hospital Milan Italy

Epilepsy Unit Michallon Hospital Grenoble France

Epilepsy Unit Sainte Anne Hospital Paris France

Faculty of Medicine Aix Marseille University Marseille France

Faculty of Medicine INSERM U1106 Institute of Neurosciences of Systems Marseille France

Henri Gastaut Hospital Saint Paul Center Marseille France

INSERM U836 University of Grenoble Alpes GIN Grenoble France

Intellectual and Developmental Disabilities Research Center David Geffen School of Medicine University of California at Los Angeles Los Angeles California U S A

IRCCS Stella Maris Foundation Pisa Italy

Laboratory for Clinical and Experimental Neurophysiology Neurobiology and Neuropsychology Department of Neurology Ghent University Ghent Belgium

Montreal Neurological Institute and Hospital McGill University Montreal Quebec Canada

Neuroimaging of Epilepsy Laboratory McConnell Brain Imaging Center Montreal Neurological Institute and Hospital McGill University Montreal Quebec Canada

Neuroscience Program and the Comprehensive Epilepsy Center Miami Children's Hospital Miami Florida U S A

Neurosurgery Department Sainte Anne Hospital Paris France

Pediatric Neurology and Neurogenetics Unit and Laboratories Children's Hospital Meyer University of Florence Florence Italy

Pediatric Neurosurgery Unit Children's Hospital Meyer University of Florence Florence Italy

Translational and Integrative Group in Epilepsy Research Lyon's Neuroscience Center INSERM U1028 CNRS 5292 UCBL Le Vinatier Hospital Bron Lyon France

UCB Pharma Neurosciences Therapeutic Area Braine l'Alleud Belgium

UCL Institute of Child Health Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

Young Epilepsy Lingfield United Kingdom

References provided by Crossref.org

A new perspective on drug-resistant epilepsy in children with focal cortical dysplasia type 1: From challenge to favorable outcome

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study

Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI