The impact of genetic and experimental studies on classification and therapy of the epilepsies.

摘要: Abstract Different types of epilepsy are associated with gene mutations, in which seizures can be the only symptom (genetic epilepsies) or one elements complex clinical pictures that often progressive over time (epileptic epileptogenic encephalopathies). In encephalopathies, epileptic and other neurological cognitive signs symptoms genetically determined neuropathological neurochemical disorders. activity itself is thought to contribute severe behavioral impairments above beyond what might expected from underlying pathology alone. The distinction conceptually clear clinically relevant, as different categories have a prognosis terms both picture, but boundaries sometimes difficult define practice. Here we review genetic epilepsies clinician perspective. A monogenic inheritance has been defined minority idiopathic making improper rename category epilepsies, until presumptive multigenic mechanism will demonstrated. search for mutations must done any patient candidate epileptic/epileptogenic encephalopathy ( e.g. familial forms) complete diagnostic process, optimize therapy. Advanced methods available express variant experimental model systems test its effect on properties affected protein, neuronal excitability phenotypes organisms, may help identifying treatments compatible action mechanisms. influence studies taxonomy now matter discussion: their impact international classification hopefully soon.