Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/61733
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Type: Journal article
Title: Augmented currents of an HCN2 variant in patients with febrile seizure syndromes
Author: Dibbens, L.
Reid, C.
Hodgson, B.
Thomas, E.
Phillips, A.
Gazina, E.
Cromer, B.
Clarke, A.
Barram, T.
Scheffer, I.
Berkovic, S.
Petrou, S.
Citation: Annals of Neurology, 2010; 67(4):542-546
Publisher: Wiley-Liss
Issue Date: 2010
ISSN: 0364-5134
1531-8249
Statement of
Responsibility: 
Leanne 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 Petrou
Abstract: 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 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.
Keywords: Oocytes; 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 Channels
Rights: Copyright © 2010 American Neurological Association
RMID: 0020097236
DOI: 10.1002/ana.21909
Appears in Collections:Paediatrics publications

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