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If you thought, in the era following the Human Genome Project, that matching genes to epilepsy syndromes would be easy or automatic, think again. We are in an era of powerful genetic laboratory technologies, but the standard phenotypic definitions of epilepsy syndromes in clinical practice are inadequate for epilepsy gene discovery. The International League Against Epilepsy (ILAE) classifications of partial seizure types1 and of localization-related epilepsy syndromes2 used in standard clinical practice have been primarily oriented toward anatomic localization and classification suitable for antiseizure drug selection and for epilepsy surgery evaluations. By contrast, the genetic coding of partial epilepsy syndromes may not be as tightly tied to localization within cortical areas as to neural networks that do not follow classic localization classifications. In order to map the genetics of epilepsy syndromes, we may need to reconsider the manner in which we define seizure types and epilepsy syndromes; that is, to recast the definitions not to conform to our localization-oriented constructs, but rather to take account of symptoms and outcomes of patients with epilepsy.
In this …
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