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

Hum Genet. 2009 Aug;126(2):337.
No abstract available

MeSH terms

  • Base Sequence
  • Case-Control Studies
  • Codon
  • DNA Mutational Analysis
  • Epilepsies, Myoclonic / genetics*
  • Gene Deletion
  • Humans
  • Infant, Newborn
  • Introns
  • Italy
  • Molecular Sequence Data
  • Mutation*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Nucleotides / genetics*
  • Sodium Channels / genetics*

Substances

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

Associated data

  • GENBANK/HD080030