Epileptogenic ion channel mutations: from bedside to bench and, hopefully, back again.

Abstract excerpt

Mutations of genes coding for ion channels cause several genetically determined human epileptic syndromes. The identification of a gene variant linked to a particular disease gives important information, but it is usually necessary to perform functional studies in order to completely disclose the pathogenic mechanisms. The functional consequences of epileptogenic mutations have been studied both in vitro and in...

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