Novel SCN1A Frameshift Mutation with Absence of Truncated Na(V)1.1 Protein in Severe Myoclonic Epilepsy of Infancy

Documenti analoghi

• Nontruncating SCN1A Mutations Associated with Severe Myoclonic Epilepsy of Infancy Impair Cell Surface Expression
  di: Thompson, Christopher H., et al.
  Pubblicazione: (2012)
• Epilepsy with myoclonic absences.
  di: Manonmani, V, et al.
  Pubblicazione: (1994)
• Epilepsy with myoclonic absences.
  di: Appleton, R E
  Pubblicazione: (1994)
• Reflex Myoclonic Epilepsy of Infancy
  di: J Gordon Millichap
  Pubblicazione: (1995-05-01)
• De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
  di: Claes, Lieve, et al.
  Pubblicazione: (2001)