Article
New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families.
Gene - 20 Feb 2002
Roll Patrice, Massacrier Annick, Pereira Sandrine, Robaglia-Schlupp Andrée, Cau Pierre, Szepetowski Pierre
Abstract excerpt
Cotransporters represent a major class of proteins that make use of ion gradients to drive active transport of substrate into cells. A new human gene, KST1, encoding a member of the sodium/glucose cotransporter family, was identified onto human chromosome 16p12-p11. This genomic region contains a major gene responsible for a syndrome of infantile convulsions and paroxysmal dyskinesia (ICCA syndrome), inherited as...
Topics
- Amino Acid Sequence
- Athetosis
- Base Sequence
- Blotting, Northern
- Chorea
- Cloning, Molecular
- DNA Mutational Analysis
- DNA, Complementary
- Epilepsy, Benign Neonatal
- Exons
- Family Health
- Gene Expression
- Genes