Abstract
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. (C) 2000 Wiley-Liss, Inc.
Original language | English (US) |
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Pages (from-to) | 268-280 |
Number of pages | 13 |
Journal | Mental Retardation and Developmental Disabilities Research Reviews |
Volume | 6 |
Issue number | 4 |
DOIs | |
State | Published - 2000 |
Externally published | Yes |
Keywords
- Animal models
- Brain development
- Dysplasia
- Gene mutations
- Lissencephaly
- Seizure mechanisms
- Tuberous sclerosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neuropsychology and Physiological Psychology
- Genetics(clinical)