Mutations of SCN1A, Encoding a Neuronal Sodium Channel, in Two Families With GEFS+2

Nat Genet. 2000 Apr;24(4):343-5. doi: 10.1038/74159.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Chromosomes, Human, Pair 2 / genetics
  • Conserved Sequence
  • DNA Mutational Analysis
  • Epilepsy, Generalized / genetics*
  • Female
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Neurons / metabolism*
  • Pedigree
  • Phenotype
  • Point Mutation
  • Seizures, Febrile / genetics*
  • Sodium Channels / genetics*
  • Sodium Channels / metabolism

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • Sodium Channels