Article
An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics.
FEBS letters - 25 Nov 1996
Weiland S, Witzemann V, Villarroel A, Propping P, Steinlein O
Abstract excerpt
The alpha4 subunit of the neuronal nicotinic acetylcholine receptor is the first gene shown to be involved in a human idiopathic epileptic disease. A missense mutation, leading to the replacement of serine 248 by phenylalanine in the second transmembrane segment, had been detected in patients wit...
Topics
- Acetylcholine
- Amino Acid Sequence
- Animals
- Binding Sites
- DNA, Complementary
- Electric Conductivity
- Electrophysiology
- Epilepsies, Partial
- Humans
- Kinetics
- Molecular Sequence Data
- Mutation