Acute encephalopathy with a novel point mutation in the SCN2A gene

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


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adult
  • Amino Acid Sequence
  • Brain Diseases / genetics*
  • Epilepsies, Partial / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • NAV1.2 Voltage-Gated Sodium Channel / chemistry
  • NAV1.2 Voltage-Gated Sodium Channel / genetics*
  • Point Mutation / genetics*
  • Protein Structure, Tertiary
  • Status Epilepticus / genetics*


  • NAV1.2 Voltage-Gated Sodium Channel
  • SCN2A protein, human