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Focal cortical dysplasia: a practical guide for neurologists
  1. Simona Balestrini1,2,3,
  2. Carmen Barba1,2,
  3. Maria Thom3,
  4. Renzo Guerrini1,2
  1. 1 Pediatric Neurology Unit and Laboratories, Meyer Children's Hospital IRCCS, Florence, Italy
  2. 2 University of Florence, Florence, Italy
  3. 3 Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK
  1. Correspondence to Prof Simona Balestrini, Pediatric Neurology Unit and Laboratories, IRCCS Meyer Children's Hospital University of Florence, Florence, Firenze, Italy; simona.balestrini{at}


Focal cortical dysplasia (FCD) is a malformation of cortical development characterised by disruption of cortical cytoarchitecture. Classification of FCDs subtypes has initially been based on correlation of the histopathology with relevant clinical, electroencephalographic and neuroimaging features. A recently proposed classification update recommends a multilayered, genotype–phenotype approach, integrating findings from histopathology, genetic analysis of resected tissue and presurgical MRI. FCDs are caused either by single somatic activating mutations in MTOR pathway genes or by double-hit inactivating mutations with a constitutional and a somatic loss-of-function mutation in repressors of the signalling pathway. Mild malformation with oligodendroglial hyperplasia in epilepsy is caused by somatic pathogenic SLC35A2 mutations. FCDs most often present with drug-resistant focal epilepsy or epileptic encephalopathy. Most patients respond to surgical treatment. The use of mechanistic target of rapamycin inhibitors may complement the surgical approach. Treatment approaches and outcomes have improved with advances in neuroimaging, neurophysiology and genetics, although predictors of treatment response have only been determined in part.

  • epilepsy
  • genetics
  • MR
  • neuropathology
  • neurophysiology

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  • Contributors SB drafted the manuscript. CB, and MT generated the figures and critically reviewed the manuscript. RG critically reviewed the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Commissioned. Externally peer reviewed by Owen Pickrell, Swansea, UK, and Daniela Pilz, Glasgow, UK.

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