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February 13, 2012

SCN1A Mutation is "Predisposing Factor" for Acute Encephalopathy, Researchers Find

Researchers in Japan have found more evidence that patients with mutations of the SCN1A gene are more at risk from acute encephalopathy (brain injuries that can lead to seizures and loss of cognitive function) as a result of pediatric viral infections than are patients without the mutation.

The researchers examined the SCN1A genes of 87 pediatric patients and found that three of them had "distinctive point mutations" of the SCN1A gene, one of which has been previously associated with Dravet syndrome. These findings support previous research that has suggested a link between SCN1A mutation and risk of acute encephalopathy arising from viral infections. (M Saitoh, et al., "Mutations of the SCN1A gene in acute encephalopathy," Epilepsia, published online February 6, 2012)

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