A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

Neurobiol Dis. 1994 Nov;1(1-2):95-9. doi: 10.1006/nbdi.1994.0012.


Benign Familial Neonatal Convulsions (BFNC) is an epileptic disorder with an autosomal dominant mode of transmission. It has been shown that about 80% of BFNC pedigrees are linked to a genetic defect on chromosome 20q13.3. A candidate gene for the epilepsies, the gene coding for the alpha4 subunit of the nicotinic cholinergic receptor (CHRNA4), has previously been localized on chromosome 20. Here we report a single point mutation converting a serine codon to a stop codon in the exon 5 of CHRNA4, in one BFNC family. Identification of CHRNA4 as the defective gene in 20q-BFNC represents the first example of a human idiopathic epilepsy caused by a mutation directly affecting a neurotransmitter receptor in the central nervous system.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Probes
  • DNA, Single-Stranded / analysis
  • Genetic Linkage / genetics*
  • Humans
  • Mutation / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Receptors, Nicotinic / genetics*
  • Seizures / genetics*


  • DNA Probes
  • DNA, Single-Stranded
  • Receptors, Nicotinic