Analysis of the T226M Nav1.1 channel mutation seen in early infantile encephalopathy

Takeaway

  • Mammalian cells expressing the T226M Nav1.1 channel mutation exhibit dramatic changes in activation and inactivation kinetics, as well as enhanced excitability followed by early depolarization block relative to wild-type (WT) cells.

Why this matters

  • Understanding the biophysical consequences of the recurrent missense SCN1A variant T226M is critical for devising treatment strategies for children with the severe early infantile epileptic encephalopathy associated with this mutation.