SCN8A – Epileptic Encephalopathy and Autism

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Convulsive seizures and SUDEP in a mouse model of SCN8A related epileptic encephalopathy.


De novo mutations of the voltage-gated sodium channel gene SCN8A have recently been recognized as a cause of epileptic encephalopathy, which is characterized by refractory seizures with developmental delay and cognitive disability.

We previously described the heterozygous SCN8A missense mutation p.Asn1768Asp in a child with epileptic encephalopathy that included seizures, ataxia, autism, and sudden unexpected death in epilepsy (SUDEP).

The mutation results in increased persistent sodium current and hyperactivity of transfected neurons. We have characterized a knock-in mouse model expressing this dominant gain-of-function mutation to investigate the pathology of the altered channel in vivo.

The mutant channel protein is stable in vivo.

Heterozygous Scn8aN1768D/+ mice exhibit seizures and SUDEP, confirming the causality of the de novo mutation in the proband. Using video/EEG analysis, we detect ictal discharges that coincide with convulsive seizures and…

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