Molecular pathology of epilepsy associated with mutations of voltage-gated sodium channel gene

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Mutations in SCN1A gene encoding voltage-gated sodium channel α1, Na_v1.1, cause severe myoclonic epilepsy in infancy (SMEI, also known as Dravet syndrome). We here demonstrated that selective Na_v1.1 elimination in inhibitory neurons was sufficient to trigger epileptic seizures a. In contrast, selective Na_v1.1 elimination in excitatory neurons did not result in epileptic seizures. The results indicate that altered functions of the inhibitory circuits predominantly contributed to epileptic seizures in mice, in good agreement with our hypothesis proposed previously.