Benign familial neonatal epilepsy with mutations in two potassium channel genes.
The significant progress made over the past year in understanding the basis for a form of neonatal seizures can be attributed to the successful positional cloning of two new voltage-gated potassium channel genes. Expression studies have increased our understanding of the biology of these channels and their role in epilepsy.
Leppert
M
M
University of Utah, Department of Human Genetics, Salt Lake City, USA. mleppert@genetics.utah.edu
Singh
N
N
D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003001:Cloning, Molecular; D005190:Family; D015870:Gene Expression / Q000502:physiology; D018740:Genetic Heterogeneity; D006801:Humans; D007231:Infant, Newborn; D008564:Membrane Potentials / Q000235:genetics; D009154:Mutation / Q000502:physiology*; D009433:Neural Inhibition / Q000235:genetics; D010641:Phenotype; D015221:Potassium Channels / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology; D012640:Seizures / Q000235:genetics* / Q000503:physiopathology; D013036:Spasms, Infantile / Q000235:genetics* / Q000503:physiopathology
D015221:Potassium Channels