Focal cortical dysplasia type II: biological features and clinical perspectives.
Focal cortical dysplasia (FCD) type II is an important cause of drug-resistant epilepsy. Clinical presentation is variable, and depends on age of onset of seizures and the location and size of lesion. As FCD type II cannot be diagnosed with certainty in the clinic, in vivo identification by use of MRI is important. Diagnosis will have a major effect on management of this pathology as it should prompt referral for specialist assessment. Drug treatment commonly proves ineffective, whereas appropriate surgical treatment can be curative in many cases. The dramatic cellular anomalies of FCD seen at histopathology indicate a widespread pattern of molecular disruption underpinning the structural disorganisation of the cortex. The cause for FCD has not been firmly established, and there are no explanations for its potent intrinsic ability to cause seizures. There seem to be both neurodevelopmental abnormalities and possible premature neurodegeneration in FCD. Understanding the coordination of the abnormal processes in FCD type II might help to promote improved detection in vivo, direct treatment strategies, and perhaps help explain the development, differentiation, and loss of brain cells, with broad implications for the epilepsies and other neurological disorders.
Sisodiya
Sanjay M
SM
Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK. sisodiya@ion.ucl.ac.uk
Fauser
Susanne
S
Cross
J Helen
JH
Thom
Maria
M
D000818:Animals; D015415:Biomarkers / Q000032:analysis; D002454:Cell Differentiation / Q000235:genetics; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D004827:Epilepsy / Q000151:congenital / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D054220:Malformations of Cortical Development / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D009410:Nerve Degeneration / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009457:Neuroglia / Q000473:pathology*; D009474:Neurons / Q000473:pathology*
D015415:Biomarkers