Article
A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)
Neurobiology of disease - 1 Nov 1994
Beck C, Moulard B, Steinlein O, Guipponi M, Vallee L, Montpied P, Baldy-Moulnier M, Malafosse A
Abstract excerpt
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 subuni...
Topics
- DNA Probes
- DNA, Single-Stranded
- Genetic Linkage
- Humans
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Receptors, Nicotinic
- Seizures