Cortical malformations and epilepsy.
Brain malformations, resulting from aberrant patterns of brain development, are highly correlated with childhood seizure syndromes, as well as with cognitive disabilities and other neurological disorders. The structural malformations, often referred to as cortical dysplasia, are extremely varied, reflecting diverse underlying processes and critical timing of the developmental aberration. Recent studies have revealed a genetic basis for many forms of dysplasia. Gene mutations responsible for such common forms of dysplasia as lissencephaly and tuberous sclerosis have been identified, and investigators are beginning to understand how these gene mutations interrupt and/or misdirect the normal developmental pattern. Laboratory investigations, using animal models of cortical dysplasia, are beginning to elucidate how these structural malformations give rise to epilepsy and other functional pathologies.
Schwartzkroin
P A
PA
Department of Neurological Surgery, University of Washington, Health Sciences Center, Seattle, Washington, USA.
Walsh
C A
CA
D017668:Age of Onset; D000818:Animals; D002454:Cell Differentiation / Q000187:drug effects / Q000502:physiology; D002455:Cell Division / Q000187:drug effects / Q000502:physiology; D002465:Cell Movement / Q000187:drug effects / Q000502:physiology; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology*; D004195:Disease Models, Animal; D004827:Epilepsy / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D051379:Mice; D018345:Mice, Knockout / Q000002:abnormalities; D009154:Mutation / Q000502:physiology; D009434:Neural Pathways / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D009474:Neurons / Q000187:drug effects / Q000378:metabolism / Q000473:pathology; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D013234:Stem Cells / Q000187:drug effects / Q000378:metabolism / Q000473:pathology