title: Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.
abstract: Epilepsy is the most common neurological disorder affecting young people. The etiologies are multiple and most cases are sporadic. However, some rare families with Mendelian inheritance have provided evidence of genes' important role in epilepsy. Two important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs) and epilepsies associated with a structurally normal brain (or with minimal abnormalities only). This review is focused on clinical and molecular aspects of focal cortical dysplasia, polymicrogyria, periventricular nodular heterotopia, subcortical band heterotopia, lissencephaly and schizencephaly as examples of MCDs. Juvenile myoclonic epilepsy, childhood absence epilepsy, some familial forms of focal epilepsy and epilepsies associated with febrile seizures are discussed as examples of epileptic conditions in (apparently) structurally normal brains.
authors.affiliation: Division of Neurology, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, 5W-445, 399 Bathurst St., Toronto M5T 2S8, Canada. Danielle.Andrade@uhn.on.ca
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Andrade
mesh_terms: D051722:ADAM Proteins / Q000235:genetics; D000071121:ADAMTS4 Protein; D001921:Brain / Q000033:anatomy & histology*; D002401:Cathepsin B / Q000235:genetics; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000254:growth & development; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000150:complications / Q000000981:diagnostic imaging / Q000503:physiopathology; D043170:Collagen Type XVIII; D004827:Epilepsy / Q000209:etiology* / Q000235:genetics* / Q000503:physiopathology; D005136:Eye Proteins / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D054082:Lissencephaly / Q000150:complications / Q000000981:diagnostic imaging / Q000503:physiopathology; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000000981:diagnostic imaging / Q000503:physiopathology; D008565:Membrane Proteins; D009154:Mutation; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D054091:Periventricular Nodular Heterotopia / Q000150:complications / Q000000981:diagnostic imaging / Q000503:physiopathology; D011348:Procollagen N-Endopeptidase / Q000235:genetics; D011859:Radiography; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D051722:ADAM Proteins; D000071121:ADAMTS4 Protein; D002401:Cathepsin B; D043170:Collagen Type XVIII; D005136:Eye Proteins; D018398:Homeodomain Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D011348:Procollagen N-Endopeptidase; D043562:Receptors, G-Protein-Coupled; D012097:Repressor Proteins; D020825:T-Box Domain Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins; C118925:ADGRG1 protein, human; C469264:ARX protein, human; C491199:EOMES protein, human; C503132:KIFBP protein, human; C000605730:PAX6 protein, human; C116881:SRPX2 protein, human