tailieunhanh - báo cáo khoa học: " Genetically complex epilepsies, copy number variants and syndrome constellations"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Genetically complex epilepsies, copy number variants and syndrome constellations | Mefford and Mulley Genome Medicine 2010 2 71 http content 2 10 71 Genome Medicine REVIEW L_ Genetically complex epilepsies copy number variants and syndrome constellations Heather C Mefford 1 and John C Mulley2 3 4 Abstract Epilepsy is one of the most common neurological disorders with a prevalence of 1 and lifetime incidence of 3 . There are numerous epilepsy syndromes most of which are considered to be genetic epilepsies. Despite the discovery of more than 20 genes for epilepsy to date much of the genetic contribution to epilepsy is not yet known. Copy number variants have been established as an important source of mutation in other complex brain disorders including intellectual disability autism and schizophrenia. Recent advances in technology now facilitate genome-wide searches for copy number variants and are beginning to be applied to epilepsy. Here we discuss what is currently known about the contribution of copy number variants to epilepsy and how that knowledge is redefining classification of clinical and genetic syndromes. Overview of clinical types and the genetics of epilepsy The International League Against Epilepsy defines an epileptic seizure as a transient occurrence of signs and or symptoms due to abnormal excessive or synchronous neuronal activity in the brain 1 2 . The condition is common with prevalence around 1 and lifetime incidence around 3 3 . Most epilepsies can be broadly and easily classified based on their pattern of electroclinical onset as either generalized originating at some point from within and rapidly engaging bilaterally distributed networks or focal originating within networks limited to one hemisphere 1 . Within each of these broad classifications are multiple distinct syndromes more than half of which are considered to be genetic epilepsies . Correspondence hmefford@ department of Pediatrics Division of Genetic Medicine University of Washington 1959 NE Pacific Street Box 356320 Seattle WA 981 95