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dc.contributor.authorDibbens, L.en
dc.contributor.authorReid, C.en
dc.contributor.authorHodgson, B.en
dc.contributor.authorThomas, E.en
dc.contributor.authorPhillips, A.en
dc.contributor.authorGazina, E.en
dc.contributor.authorCromer, B.en
dc.contributor.authorClarke, A.en
dc.contributor.authorBarram, T.en
dc.contributor.authorScheffer, I.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorPetrou, S.en
dc.identifier.citationAnnals of Neurology, 2010; 67(4):542-546en
dc.description.abstractThe 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 using automated electrophysiology and an appropriately powered sample size. This is the first association of HCN2 and familial epilepsy, demonstrating gain of function of HCN2 current as a potential contributor to polygenic epilepsy.en
dc.description.statementofresponsibilityLeanne M. Dibbens, Christopher A. Reid, Bree Hodgson, Evan A. Thomas, Alison M. Phillips, Elena Gazina, Brett A. Cromer, Alison L. Clarke, Tallie Z. Baram, Ingrid E. Scheffer, Samuel F. Berkovic and Steven Petrouen
dc.rightsCopyright © 2010 American Neurological Associationen
dc.subjectOocytes; Animals; Xenopus; Humans; Seizures, Febrile; Proline; Ion Channels; Potassium Channels; Cyclic AMP; Patch-Clamp Techniques; Transfection; DNA Mutational Analysis; Electric Stimulation; Biophysics; Sequence Deletion; Membrane Potentials; Gene Frequency; Cyclic Nucleotide-Gated Cation Channels; Hyperpolarization-Activated Cyclic Nucleotide-Gated Channelsen
dc.titleAugmented currents of an HCN2 variant in patients with febrile seizure syndromesen
dc.typeJournal articleen
pubs.library.collectionPaediatrics publicationsen
Appears in Collections:Paediatrics publications

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