Genetics of inherited human epilepsies.
Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery that mutations in ion channel subunits are implicated. However, important advances have also been made in many inherited symptomatic epilepsies, for which direct molecular diagnosis is now possible, simplifying previously complex investigations, it is expected that identification of the genes implicated in familial forms of epilepsies will lead to a better understanding of the underlying pathophysiological mechanisms of these disorders and to the development of experimental models and new therapeutic strategies, in this article, we review the clinical and genetic data concerning most of the inherited human epilepsies.
Unité d'Epileptologie, Hôpital Pitié-Salpêtrière, Paris, France; Service d'Electrophysiologie, Hôpital Pitié-Salpêtrière, Paris, France.
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Gourfinkel-An
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Baulac
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Brice
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Leguern
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Baulac