Sodium channel beta subunits mutations and temporal lobe epilepsy
Category: Current
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We are currently characterizing the phenotype of a mouse model in which we have introduced a mutation into the beta subunit of a mouse sodium channel identical to that found in humans with inherited forms of epilepsy. The human patients with this mutation exhibit seizures triggered by elevated body temperatures or febrile seizures and temporal lobe epilepsy. The mouse containing this same mutation shows reduced thresholds to stimuli that promote seizures. We are further investigating whether the mutation has additional effects in making individuals more susceptible to ongoing more severe forms of epilepsy as a consequent of these febrile seizures during early life.
