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The Expanding Role of Genetics in Epilepsy

ABSTRACT. New discoveries in genetics promise breakthroughs in both the diagnosis and the treatment of generalized epilepsy. Benign familial convulsions and juvenile myoclonic epilepsy are examples of inheritable epileptic syndromes in which the genetic defect has been identified. It appears that in most generalized epilepsies there is an alteration of the chloride, sodium, or calcium channels. Identification of the specific metabolic error now permits treatment with medications that act specifically on that error. Since most antiepileptic drugs are metabolized by the liver, genetic profiles may permit physicians to prescribe appropriate drug dosages, without the trial and error necessary today.