Clinical spectrum and treatment perspectives
Inherited Channelopathies account for a substantial fraction of epilepsy syndromes ranging from severe infantile encephalopathies to relatively benign focal epilepsies. Recent molecular genetic advances have contributed to our understanding of the pathophysiological mechanisms underlying these epileptic disorders. Although epileptic channelopathies are individually rare, they can be accurately diagnosed by careful clinical assessment, appropriate laboratory investigations and DNA-based diagnosis. An accurate diagnosis is important for genetic counselling and to direct treatment options. Recently, some evidences showing that dysfunctional channels can be specifically targeted with drugs acting on them has suggested that a 'prescision medicine' approach may be promising, particularly in this groups of diseases where drug-resistance is common and evidence based treatment is lacking.
The main aims of this conference are to provide an updated overview of the currently recognized forms of epileptic channelopathies, to review the present knowledge on their pathogenetic mechanisms, and to dicuss present and future therapeutic approaches.
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