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Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children
Author(s) -
BrooksKayal Amy
Publication year - 2011
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2010.02906.x
Subject(s) - epilepsy , rett syndrome , autism , intellectual disability , tuberous sclerosis , neuroscience , fragile x syndrome , cognition , psychology , etiology , autism spectrum disorder , epilepsy syndromes , phenotype , bioinformatics , medicine , psychiatry , genetics , biology , gene
Summary Intellectual and developmental disabilities (IDDs) such as autistic spectrum disorders (ASDs) and epilepsies are heterogeneous disorders that have diverse etiologies and pathophysiologies. The high rate of co‐occurrence of these disorders, however, suggests potentially shared underlying mechanisms. A number of well‐known genetic disorders share epilepsy, intellectual disability, and autism as prominent phenotypic features, including tuberous sclerosis complex, Rett syndrome, and fragile X syndrome. In addition, mutations of several genes involved in neurodevelopment, including ARX , DCX , neuroligins, and neuropilin 2 have been identified in children with epilepsy, IDDs, ASDs, or a combination of thereof. Finally, in animal models, early life seizures can result in cellular and molecular changes that could contribute to learning and behavioral disabilities. Increased understanding of the common genetic, molecular, and cellular mechanisms of IDDs, ASDs, and epilepsy may provide insight into their underlying pathophysiology and elucidate new therapeutic approaches for these conditions.