Ontology highlight
ABSTRACT:
SUBMITTER: Jorge BS
PROVIDER: S-EPMC3069171 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20110314 13
Mutations in voltage-gated ion channels are responsible for several types of epilepsy. Genetic epilepsies often exhibit variable severity in individuals with the same mutation, which may be due to variation in genetic modifiers. The Scn2a(Q54) transgenic mouse model has a sodium channel mutation and exhibits epilepsy with strain-dependent severity. We previously mapped modifier loci that influence Scn2a(Q54) phenotype severity and identified Kcnv2, encoding the voltage-gated potassium channel su ...[more]