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

Summary 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.