Clinical Neurogenetics: Recent Advances in the Genetics of Epilepsy

作者: Rohini Coorg , Judith L.Z. Weisenberg , Michael Wong

DOI: 10.1016/J.NCL.2013.04.003

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摘要: Abstract Epilepsy represents a diverse group of disorders with primary and secondary genetic etiologies, as well non-genetic causes. As more causative genes are identified, testing is becoming increasingly important in the evaluation management epilepsy. This article outlines clinical approach to epilepsy patients, emphasis on testing. Specific targeted tests available for numerous individual causes Broader screening tests, such chromosome microarray analysis whole exome sequencing, have also been developed. standardized protocol has not established, individualized diagnostic approaches patients should be used.

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