Cortical dysgenesis: recent aspects regarding pathogenesis and pathophysiology

Cortical dysgenesia are a heterogenous group of genetic or acquired disturb ances of cortical development which, due to the enormous progress in modern neuroimaging techniques, are increasingly recognized in association with a variety of clinical disorders. The spectrum of clinical manifestations, de pending on type and extent of the alterations, includes severe mental retar dation and epilepsy as well as neuropsychological deficits and some psychia tric disorders. Although pathogenesis and pathophysiology of cortical dysge nesis are still not fully understood,the recent discovery of responsible ge nes, growth factors, neurotransmitters, and exogenous factors sheds light o n elementary mechanisms. The development of animal models mimicking differe nt types of human cortical malformations helped to increase further the und erstanding of functional consequences of focal cortical dysgenesis. Several studies on these models reveal widespread alterations of cortical connecti vity and excitability which are probably of crucial importance in different clinical disorders.