Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy

Hum Genet. 2010 Apr;127(4):463. doi: 10.1007/s00439-010-0788-5.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Codon / genetics
  • Codon, Nonsense
  • Epilepsies, Myoclonic / genetics*
  • Humans
  • Infant
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Sodium Channels / genetics*

Substances

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