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Epilepsy Res. 2012 Nov;102(1-2):109-12. doi: 10.1016/j.eplepsyres.2012.04.016. Epub 2012 May 14.

Acute encephalopathy with a novel point mutation in the SCN2A gene.

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Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Shikatacho 2-5-1, Okayama 700-8558, Japan.


Mutations of the neuronal voltage-gated sodium channel alpha subunit type II (SCN2A) cause various epileptic syndromes, but have never been reported in association with acute encephalopathy. To validate the involvement of SCN2A mutations in acute encephalopathy, we screened 25 patients and found a novel missense mutation (Met1128Thr) in a patient with acute encephalitis with refractory, repetitive partial seizures (AERRPS). This finding suggests that SCN2A mutation is a predisposing factor for acute encephalopathy.

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