Article
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Nature genetics - 1 Jan 1998
Singh N A, Charlier C, Stauffer D, DuPont B R, Leach R J, Melis R, Ronen G M, Bjerre I, Quattlebaum T, Murphy J V, McHarg M L, Gagnon D, Rosales T O, Peiffer A, Anderson V E, Leppert M
Abstract excerpt
Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-seg...
Topics
- Amino Acid Sequence
- Base Sequence
- Cell Line, Transformed
- Chromosome Deletion
- Chromosomes, Human, Pair 20
- DNA, Complementary
- Epilepsy
- Female
- Humans
- Infant, Newborn
- KCNQ2 Potassium Channel
- Male
- Molecular Sequence Data
- Mutation