Nontruncating SCN1A Mutations Associated with Severe Myoclonic Epilepsy of Infancy Impair Cell Surface Expression

Lignende værker

• Genetics of Severe Myoclonic Epilepsy of Infancy
  af: J Gordon Millichap
  Udgivet: (2003-07-01)
• Novel SCN1A Frameshift Mutation with Absence of Truncated Na(V)1.1 Protein in Severe Myoclonic Epilepsy of Infancy
  af: McArdle, Erin J., et al.
  Udgivet: (2008)
• Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
  af: Rhodes, Thomas H., et al.
  Udgivet: (2004)
• De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
  af: Claes, Lieve, et al.
  Udgivet: (2001)
• Impaired Inactivation Gate Stabilization Predicts Increased Persistent Current for an Epilepsy-Associated SCN1A Mutation
  af: Kahlig, Kristopher M., et al.
  Udgivet: (2006)