Abstract
Brain malformations are clinically and genetically important causes of psychomotor retardation and seizures. Their classification is based on cerebral imaging, which also provides important information for prognostic considerations as well as for further genetic workup. For a considerable number of the affected patients, a causal genetic alteration can be identified. Mutations in some of the ...
Abstract
Brain malformations are clinically and genetically important causes of psychomotor retardation and seizures. Their classification is based on cerebral imaging, which also provides important information for prognostic considerations as well as for further genetic workup. For a considerable number of the affected patients, a causal genetic alteration can be identified. Mutations in some of the involved genes are also associated with allelic disorders with milder phenotypes, including mild mental retardation without obvious structural brain malformations. Characterization of the underlying causal genetic alterations not only contributes to our understanding of the genetic control of brain development but also permits new insight into the pathophysiology of mental retardation and seizures. Furthermore, identification of the underlying mutations allows individual genetic counseling of the affected families regarding specific recurrence risks and prenatal diagnostic options in a subsequent pregnancy.
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