Ontology highlight
ABSTRACT:
SUBMITTER: Dibbens LM
PROVIDER: S-EPMC3383007 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Dibbens Leanne M LM Reid Christopher A CA Hodgson Bree B Thomas Evan A EA Phillips Alison M AM Gazina Elena E Cromer Brett A BA Clarke Alison L AL Baram Tallie Z TZ Scheffer Ingrid E IE Berkovic Samuel F SF Petrou Steven S
Annals of neurology 20100401 4
The genetic architecture of common epilepsies is largely unknown. HCNs are excellent epilepsy candidate genes because of their fundamental neurophysiological roles. Screening in subjects with febrile seizures and genetic epilepsy with febrile seizures plus revealed that 2.4% carried a common triple proline deletion (delPPP) in HCN2 that was seen in only 0.2% of blood bank controls. Currents generated by mutant HCN2 channels were approximately 35% larger than those of controls; an effect revealed ...[more]