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Article

Augmented currents of an <i>HCN2</i> variant in patients with febrile seizure syndromes

9 Nov 2009

Abstract excerpt

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...

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PMID: 20437590
DOI: 10.1002/ana.21909

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