Ontology highlight
ABSTRACT:
SUBMITTER: Tang B
PROVIDER: S-EPMC2709210 | biostudies-literature | 2008 Jan
REPOSITORIES: biostudies-literature
Tang Bin B Sander Thomas T Craven Kimberley B KB Hempelmann Anne A Escayg Andrew A
Neurobiology of disease 20070824 1
Hyperpolarization-activated cyclic nucleotide-gated (HCN1-4) channels play an important role in the regulation of neuronal rhythmicity. In the present study we describe the mutation analysis of HCN1 and HCN2 in 84 unrelated patients with idiopathic generalized epilepsy (IGE). Several functional variants were identified including the amino acid substitution R527Q in HCN2 exon 5. HCN2 channels containing the R527Q variant demonstrated a trend towards a decreased slope of the conductance-voltage re ...[more]